Linked Data
dbSNP Id:
rs11536878
gnomAD v2:
9-120471553-C-A
gnomAD v3:
9-117709275-C-A
gnomAD v4:
9-117709275-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117709275C>A , CM000671.2:g.117709275C>A | GRCh38 |
| NC_000009.11:g.120471553C>A , CM000671.1:g.120471553C>A | GRCh37 |
| NC_000009.10:g.119511374C>A | NCBI36 |
| NG_011475.1:g.10094C>A | |
| NG_011475.2:g.9873C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646089.2:c.93+4710C>A | ENSP00000496197.1:n.93+4710C>A | |
| ENST00000697624.1:n.200+4710C>A | ||
| ENST00000697625.1:c.93+4710C>A | ENSP00000513362.1:n.93+4710C>A | |
| ENST00000697636.1:c.93+4710C>A | ENSP00000513366.1:n.93+4710C>A | |
| ENST00000697637.1:c.93+4710C>A | ENSP00000513367.1:n.93+4710C>A | |
| ENST00000697664.1:c.140+546C>A | ENSP00000513389.1:n.140+546C>A | |
| ENST00000697665.1:c.93+4710C>A | ENSP00000513390.1:n.93+4710C>A | |
| ENST00000697666.1:c.140+546C>A | ENSP00000513391.1:n.140+546C>A | |
| ENST00000355622.8:c.260+546C>A MANE Select | ENSP00000363089.5:n.260+546C>A | |
| ENST00000394487.5:c.140+546C>A | ENSP00000377997.4:n.140+546C>A | |
| ENST00000472304.2:c.94-3114C>A | ENSP00000496429.1:n.94-3114C>A | |
| ENST00000642985.1:c.260+546C>A | ENSP00000493686.1:n.260+546C>A | |
| ENST00000646089.1:c.93+4710C>A | ENSP00000496197.1:n.93+4710C>A | |
| ENST00000665764.1:c.93+4710C>A | ENSP00000499745.1:n.93+4710C>A | |
| ENST00000355622.6:c.260+546C>A | ENSP00000363089.5:n.260+546C>A | |
| ENST00000394487.4:c.140+546C>A | ENSP00000377997.4:n.140+546C>A | |
| ENST00000472304.1:n.178-3114C>A | ||
| NM_003266.3:c.140+546C>A | NP_003257.1:n.140+546C>A | |
| NM_138554.4:c.260+546C>A | NP_612564.1:n.260+546C>A | |
| NM_138557.2:c.-340-3114C>A | NP_612567.1:n.-340-3114C>A | |
| NM_138554.5:c.260+546C>A MANE Select | NP_612564.1:n.260+546C>A | |
| NM_003266.4:c.140+546C>A | NP_003257.1:n.140+546C>A | |
| NM_138557.3:c.-340-3114C>A | NP_612567.1:n.-340-3114C>A |