WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
427213
ClinVar RCV Id:
RCV000490246
dbSNP Id:
rs1085308029
PubMed:
PMID:27884935
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.84752019G>T , CM000671.2:g.84752019G>T | GRCh38 |
| NC_000009.11:g.87366934G>T , CM000671.1:g.87366934G>T | GRCh37 |
| NC_000009.10:g.86556754G>T | NCBI36 |
| NG_012201.2:g.88469G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304053.11:c.1330G>T | ENSP00000306167.7:p.Gly444Ter | |
| ENST00000323115.11:c.1294G>T | ENSP00000314586.5:p.Gly432Ter | |
| ENST00000685095.1:n.1995G>T | ||
| ENST00000685209.1:n.2444G>T | ||
| ENST00000685387.1:c.1294G>T | ENSP00000509099.1:p.Gly432Ter | |
| ENST00000685425.1:n.1995G>T | ||
| ENST00000685463.1:n.1995G>T | ||
| ENST00000685720.1:c.1330G>T | ENSP00000509031.1:p.Gly444Ter | |
| ENST00000686259.1:c.1330G>T | ENSP00000509743.1:p.Gly444Ter | |
| ENST00000686322.1:c.862G>T | ENSP00000510032.1:p.Gly288Ter | |
| ENST00000686324.1:c.1330G>T | ENSP00000510134.1:p.Gly444Ter | |
| ENST00000686332.1:n.2408G>T | ||
| ENST00000686443.1:c.1330G>T | ENSP00000509093.1:p.Gly444Ter | |
| ENST00000686496.1:c.1330G>T | ENSP00000510060.1:p.Gly444Ter | |
| ENST00000686542.1:c.1291G>T | ENSP00000510356.1:p.Gly431Ter | |
| ENST00000687148.1:c.1330G>T | ENSP00000510717.1:p.Gly444Ter | |
| ENST00000687386.1:c.1330G>T | ENSP00000508723.1:p.Gly444Ter | |
| ENST00000687596.1:c.1330G>T | ENSP00000509999.1:p.Gly444Ter | |
| ENST00000687636.1:c.1330G>T | ENSP00000508829.1:p.Gly444Ter | |
| ENST00000688013.1:c.1330G>T | ENSP00000508443.1:p.Gly444Ter | |
| ENST00000688041.1:n.1995G>T | ||
| ENST00000688333.1:n.2263G>T | ||
| ENST00000689301.1:c.862G>T | ENSP00000510766.1:p.Gly288Ter | |
| ENST00000689651.1:n.2444G>T | ||
| ENST00000689685.1:c.1330G>T | ENSP00000509169.1:p.Gly444Ter | |
| ENST00000689815.1:c.1330G>T | ENSP00000510451.1:p.Gly444Ter | |
| ENST00000690163.1:c.1330G>T | ENSP00000508947.1:p.Gly444Ter | |
| ENST00000690281.1:c.1330G>T | ENSP00000510757.1:p.Gly444Ter | |
| ENST00000690882.1:n.1995G>T | ||
| ENST00000691415.1:c.1330G>T | ENSP00000509058.1:p.Gly444Ter | |
| ENST00000691567.1:n.1310G>T | ||
| ENST00000691788.1:c.1330G>T | ENSP00000509401.1:p.Gly444Ter | |
| ENST00000692181.1:c.1330G>T | ENSP00000510619.1:p.Gly444Ter | |
| ENST00000692389.1:c.1330G>T | ENSP00000508497.1:p.Gly444Ter | |
| ENST00000692473.1:c.862G>T | ENSP00000509020.1:p.Gly288Ter | |
| ENST00000692506.1:c.1330G>T | ENSP00000508622.1:p.Gly444Ter | |
| ENST00000692654.1:n.1995G>T | ||
| ENST00000692762.1:c.1330G>T | ENSP00000510071.1:p.Gly444Ter | |
| ENST00000692804.1:c.1159+24060G>T | ENSP00000509958.1:n.1159+24060G>T | |
| ENST00000693109.1:c.1330G>T | ENSP00000509456.1:p.Gly444Ter | |
| ENST00000693127.1:c.1024G>T | ENSP00000509145.1:p.Gly342Ter | |
| ENST00000693384.1:c.1330G>T | ENSP00000509136.1:p.Gly444Ter | |
| ENST00000693539.1:c.1330G>T | ENSP00000510640.1:p.Gly444Ter | |
| ENST00000277120.8:c.1330G>T MANE Select | ENSP00000277120.3:p.Gly444Ter | |
| ENST00000323115.10:c.1330G>T | ENSP00000314586.4:p.Gly444Ter | |
| ENST00000359847.4:c.1330G>T | ENSP00000352906.3:p.Gly444Ter | |
| ENST00000376208.6:c.1330G>T | ENSP00000365381.1:p.Gly444Ter | |
| ENST00000376213.6:c.1330G>T | ENSP00000365386.1:p.Gly444Ter | |
| ENST00000395882.6:c.1330G>T | ENSP00000379221.1:p.Gly444Ter | |
| ENST00000277120.7:c.1330G>T | ENSP00000277120.3:p.Gly444Ter | |
| ENST00000304053.10:c.1330G>T | ENSP00000306167.6:p.Gly444Ter | |
| ENST00000323115.8:c.1330G>T | ENSP00000314586.4:p.Gly444Ter | |
| ENST00000359847.3:c.1330G>T | ENSP00000352906.3:p.Gly444Ter | |
| ENST00000376208.5:c.1330G>T | ENSP00000365381.1:p.Gly444Ter | |
| ENST00000376213.5:c.1330G>T | ENSP00000365386.1:p.Gly444Ter | |
| ENST00000376214.5:c.1330G>T | ENSP00000365387.1:p.Gly444Ter | |
| ENST00000395882.5:c.1330G>T | ENSP00000379221.1:p.Gly444Ter | |
| NM_001007097.2:c.1330G>T | NP_001007098.1:p.Gly444Ter | |
| NM_001018064.2:c.1330G>T | NP_001018074.1:p.Gly444Ter | |
| NM_001018065.2:c.1330G>T | NP_001018075.1:p.Gly444Ter | |
| NM_001018066.2:c.1330G>T | NP_001018076.1:p.Gly444Ter | |
| NM_001291937.1:c.1291G>T | NP_001278866.1:p.Gly431Ter | |
| NM_006180.4:c.1330G>T | NP_006171.2:p.Gly444Ter | |
| XM_005252001.1:c.1330G>T | XP_005252058.1:p.Gly444Ter | |
| XM_005252003.1:c.1330G>T | XP_005252060.1:p.Gly444Ter | |
| XM_005252004.1:c.1330G>T | XP_005252061.1:p.Gly444Ter | |
| XM_005252006.2:c.1330G>T | XP_005252063.1:p.Gly444Ter | |
| XM_005252007.2:c.1330G>T | XP_005252064.1:p.Gly444Ter | |
| XM_011518718.1:c.1330G>T | XP_011517020.1:p.Gly444Ter | |
| XM_011518719.1:c.1330G>T | XP_011517021.1:p.Gly444Ter | |
| XM_011518720.1:c.1330G>T | XP_011517022.1:p.Gly444Ter | |
| XM_005252001.3:c.1330G>T | XP_005252058.1:p.Gly444Ter | |
| XM_005252003.3:c.1330G>T | XP_005252060.1:p.Gly444Ter | |
| XM_005252004.2:c.1330G>T | XP_005252061.1:p.Gly444Ter | |
| XM_005252006.4:c.1330G>T | XP_005252063.1:p.Gly444Ter | |
| XM_005252007.4:c.1330G>T | XP_005252064.1:p.Gly444Ter | |
| XM_011518718.3:c.1330G>T | XP_011517020.1:p.Gly444Ter | |
| XM_011518720.3:c.1330G>T | XP_011517022.1:p.Gly444Ter | |
| XM_017014751.2:c.1330G>T | XP_016870240.1:p.Gly444Ter | |
| XM_017014752.1:c.1330G>T | XP_016870241.1:p.Gly444Ter | |
| XM_017014753.2:c.1330G>T | XP_016870242.1:p.Gly444Ter | |
| XM_017014754.1:c.1330G>T | XP_016870243.1:p.Gly444Ter | |
| XM_017014755.1:c.1330G>T | XP_016870244.1:p.Gly444Ter | |
| XM_017014756.1:c.1330G>T | XP_016870245.1:p.Gly444Ter | |
| XM_017014757.1:c.1330G>T | XP_016870246.1:p.Gly444Ter | |
| XM_017014758.1:c.1330G>T | XP_016870247.1:p.Gly444Ter | |
| XM_017014759.1:c.1330G>T | XP_016870248.1:p.Gly444Ter | |
| XM_017014760.2:c.1330G>T | XP_016870249.1:p.Gly444Ter | |
| XM_017014761.1:c.1330G>T | XP_016870250.1:p.Gly444Ter | |
| NM_001007097.3:c.1330G>T | NP_001007098.1:p.Gly444Ter | |
| NM_001018064.3:c.1330G>T | NP_001018074.1:p.Gly444Ter | |
| NM_001018066.3:c.1330G>T | NP_001018076.1:p.Gly444Ter | |
| NM_001291937.2:c.1291G>T | NP_001278866.1:p.Gly431Ter | |
| NM_001369532.1:c.1330G>T | NP_001356461.1:p.Gly444Ter | |
| NM_001369533.1:c.1330G>T | NP_001356462.1:p.Gly444Ter | |
| NM_001369534.1:c.1294G>T | NP_001356463.1:p.Gly432Ter | |
| NM_001369535.1:c.862G>T | NP_001356464.1:p.Gly288Ter | |
| NM_001369536.1:c.862G>T | NP_001356465.1:p.Gly288Ter | |
| NM_001369537.1:c.1330G>T | NP_001356466.1:p.Gly444Ter | |
| NM_001369538.1:c.1330G>T | NP_001356467.1:p.Gly444Ter | |
| NM_001369539.1:c.1330G>T | NP_001356468.1:p.Gly444Ter | |
| NM_001369540.1:c.1330G>T | NP_001356469.1:p.Gly444Ter | |
| NM_001369541.1:c.1330G>T | NP_001356470.1:p.Gly444Ter | |
| NM_001369542.1:c.1330G>T | NP_001356471.1:p.Gly444Ter | |
| NM_001369543.1:c.1330G>T | NP_001356472.1:p.Gly444Ter | |
| NM_001369544.1:c.1330G>T | NP_001356473.1:p.Gly444Ter | |
| NM_001369545.1:c.1330G>T | NP_001356474.1:p.Gly444Ter | |
| NM_001369546.1:c.1291G>T | NP_001356475.1:p.Gly431Ter | |
| NM_001369547.1:c.1330G>T | NP_001356476.1:p.Gly444Ter | |
| NM_001369548.1:c.1330G>T | NP_001356477.1:p.Gly444Ter | |
| NM_001369549.1:c.1330G>T | NP_001356478.1:p.Gly444Ter | |
| NM_001369550.1:c.862G>T | NP_001356479.1:p.Gly288Ter | |
| NM_001369551.1:c.862G>T | NP_001356480.1:p.Gly288Ter | |
| NM_001369552.1:c.862G>T | NP_001356481.1:p.Gly288Ter | |
| NM_006180.5:c.1330G>T | NP_006171.2:p.Gly444Ter | |
| NM_006180.6:c.1330G>T MANE Select | NP_006171.2:p.Gly444Ter |