Linked Data
ClinVar Variation Id:
11729
ClinVar RCV Id:
RCV000012495
dbSNP Id:
rs122445100
PubMed:
PMID:7697714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77520826C>A , CM000685.2:g.77520826C>A | GRCh38 |
| NC_000023.10:g.76776304C>A , CM000685.1:g.76776304C>A | GRCh37 |
| NC_000023.9:g.76662960C>A | NCBI36 |
| NG_008838.2:g.270396G>T | |
| NG_008838.3:g.270444G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7162G>T MANE Select | ENSP00000362441.4:p.Glu2388Ter | |
| ENST00000675732.1:c.2260G>T | ENSP00000502598.1:p.Glu754Ter | |
| ENST00000373344.9:c.7162G>T | ENSP00000362441.4:p.Glu2388Ter | |
| ENST00000395603.7:c.7048G>T | ENSP00000378967.3:p.Glu2350Ter | |
| ENST00000480283.5:c.*6790G>T | ENSP00000480196.1:n.*6790G>T | |
| ENST00000623706.3:n.5482G>T | ||
| ENST00000624766.1:n.393G>T | ||
| NM_000489.4:c.7162G>T | NP_000480.3:p.Glu2388Ter | |
| NM_138270.3:c.7048G>T | NP_612114.2:p.Glu2350Ter | |
| XM_005262153.3:c.7159G>T | XP_005262210.2:p.Glu2387Ter | |
| XM_005262154.3:c.7075G>T | XP_005262211.2:p.Glu2359Ter | |
| XM_005262155.3:c.7045G>T | XP_005262212.2:p.Glu2349Ter | |
| XM_005262156.3:c.6997G>T | XP_005262213.2:p.Glu2333Ter | |
| XM_005262157.3:c.6958G>T | XP_005262214.2:p.Glu2320Ter | |
| XM_006724666.2:c.7045G>T | XP_006724729.1:p.Glu2349Ter | |
| XM_006724667.2:c.6883G>T | XP_006724730.1:p.Glu2295Ter | |
| XR_938400.1:n.8754G>T | ||
| NM_000489.5:c.7162G>T | NP_000480.3:p.Glu2388Ter | |
| XM_005262153.5:c.7159G>T | XP_005262210.2:p.Glu2387Ter | |
| XM_005262154.5:c.7075G>T | XP_005262211.2:p.Glu2359Ter | |
| XM_005262155.4:c.7045G>T | XP_005262212.2:p.Glu2349Ter | |
| XM_005262156.4:c.6997G>T | XP_005262213.2:p.Glu2333Ter | |
| XM_005262157.5:c.6958G>T | XP_005262214.2:p.Glu2320Ter | |
| XM_006724666.4:c.7045G>T | XP_006724729.1:p.Glu2349Ter | |
| XM_006724667.3:c.6883G>T | XP_006724730.1:p.Glu2295Ter | |
| XM_017029601.2:c.7072G>T | XP_016885090.1:p.Glu2358Ter | |
| XM_017029602.1:c.7042G>T | XP_016885091.1:p.Glu2348Ter | |
| XM_017029603.1:c.6994G>T | XP_016885092.1:p.Glu2332Ter | |
| XM_017029604.2:c.6961G>T | XP_016885093.1:p.Glu2321Ter | |
| XM_017029605.1:c.6958G>T | XP_016885094.1:p.Glu2320Ter | |
| XM_017029606.2:c.6931G>T | XP_016885095.1:p.Glu2311Ter | |
| XM_017029607.2:c.6928G>T | XP_016885096.1:p.Glu2310Ter | |
| XM_017029608.2:c.6880G>T | XP_016885097.1:p.Glu2294Ter | |
| XM_017029609.1:c.6844G>T | XP_016885098.1:p.Glu2282Ter | |
| XM_017029610.1:c.6841G>T | XP_016885099.1:p.Glu2281Ter | |
| XM_017029611.1:c.6796G>T | XP_016885100.1:p.Glu2266Ter | |
| XR_001755700.2:n.7461G>T | ||
| NM_138270.4:c.7048G>T | NP_612114.2:p.Glu2350Ter | |
| NM_000489.6:c.7162G>T MANE Select | NP_000480.3:p.Glu2388Ter | |
| NM_138270.5:c.7048G>T | NP_612114.2:p.Glu2350Ter |