Linked Data
dbSNP Id:
rs10868235
gnomAD v2:
9-87493755-C-T
gnomAD v3:
9-84878840-C-T
gnomAD v4:
9-84878840-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.84878840C>T , CM000671.2:g.84878840C>T | GRCh38 |
| NC_000009.11:g.87493755C>T , CM000671.1:g.87493755C>T | GRCh37 |
| NC_000009.10:g.86683575C>T | NCBI36 |
| NG_012201.2:g.215290C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323115.11:c.1549+11409C>T | ENSP00000314586.5:n.1549+11409C>T | |
| ENST00000685095.1:n.2250+11409C>T | ||
| ENST00000685463.1:n.2250+11409C>T | ||
| ENST00000686259.1:c.1585+11409C>T | ENSP00000509743.1:n.1585+11409C>T | |
| ENST00000686324.1:c.1633+11409C>T | ENSP00000510134.1:n.1633+11409C>T | |
| ENST00000686332.1:n.2663+11409C>T | ||
| ENST00000686496.1:c.1585+11409C>T | ENSP00000510060.1:n.1585+11409C>T | |
| ENST00000687386.1:c.1585+11409C>T | ENSP00000508723.1:n.1585+11409C>T | |
| ENST00000688333.1:n.2518+11409C>T | ||
| ENST00000688978.1:n.304+11409C>T | ||
| ENST00000689301.1:c.1117+11409C>T | ENSP00000510766.1:n.1117+11409C>T | |
| ENST00000690882.1:n.2250+11409C>T | ||
| ENST00000691788.1:c.1585+11409C>T | ENSP00000509401.1:n.1585+11409C>T | |
| ENST00000692181.1:c.1585+11409C>T | ENSP00000510619.1:n.1585+11409C>T | |
| ENST00000692473.1:c.1165+11409C>T | ENSP00000509020.1:n.1165+11409C>T | |
| ENST00000277120.8:c.1633+11409C>T MANE Select | ENSP00000277120.3:n.1633+11409C>T | |
| ENST00000323115.10:c.1585+11409C>T | ENSP00000314586.4:n.1585+11409C>T | |
| ENST00000376213.6:c.1585+11409C>T | ENSP00000365386.1:n.1585+11409C>T | |
| ENST00000277120.7:c.1633+11409C>T | ENSP00000277120.3:n.1633+11409C>T | |
| ENST00000323115.8:c.1585+11409C>T | ENSP00000314586.4:n.1585+11409C>T | |
| ENST00000376213.5:c.1585+11409C>T | ENSP00000365386.1:n.1585+11409C>T | |
| ENST00000376214.5:c.1633+11409C>T | ENSP00000365387.1:n.1633+11409C>T | |
| NM_001018064.2:c.1585+11409C>T | NP_001018074.1:n.1585+11409C>T | |
| NM_006180.4:c.1633+11409C>T | NP_006171.2:n.1633+11409C>T | |
| XM_005252001.1:c.1633+11409C>T | XP_005252058.1:n.1633+11409C>T | |
| XM_005252003.1:c.1633+11409C>T | XP_005252060.1:n.1633+11409C>T | |
| XM_005252004.1:c.1633+11409C>T | XP_005252061.1:n.1633+11409C>T | |
| XM_011518718.1:c.1585+11409C>T | XP_011517020.1:n.1585+11409C>T | |
| XM_011518719.1:c.1585+11409C>T | XP_011517021.1:n.1585+11409C>T | |
| XM_005252001.3:c.1633+11409C>T | XP_005252058.1:n.1633+11409C>T | |
| XM_005252003.3:c.1633+11409C>T | XP_005252060.1:n.1633+11409C>T | |
| XM_005252004.2:c.1633+11409C>T | XP_005252061.1:n.1633+11409C>T | |
| XM_011518718.3:c.1585+11409C>T | XP_011517020.1:n.1585+11409C>T | |
| XM_017014751.2:c.1633+11409C>T | XP_016870240.1:n.1633+11409C>T | |
| XM_017014752.1:c.1585+11409C>T | XP_016870241.1:n.1585+11409C>T | |
| XM_017014753.2:c.1585+11409C>T | XP_016870242.1:n.1585+11409C>T | |
| XM_017014754.1:c.1585+11409C>T | XP_016870243.1:n.1585+11409C>T | |
| NM_001018064.3:c.1585+11409C>T | NP_001018074.1:n.1585+11409C>T | |
| NM_001369532.1:c.1585+11409C>T | NP_001356461.1:n.1585+11409C>T | |
| NM_001369533.1:c.1585+11409C>T | NP_001356462.1:n.1585+11409C>T | |
| NM_001369534.1:c.1549+11409C>T | NP_001356463.1:n.1549+11409C>T | |
| NM_001369535.1:c.1117+11409C>T | NP_001356464.1:n.1117+11409C>T | |
| NM_001369536.1:c.1165+11409C>T | NP_001356465.1:n.1165+11409C>T | |
| NM_006180.5:c.1633+11409C>T | NP_006171.2:n.1633+11409C>T | |
| NM_006180.6:c.1633+11409C>T MANE Select | NP_006171.2:n.1633+11409C>T |