Linked Data
dbSNP Id:
rs17030795
gnomAD v2:
4-102048076-A-G
gnomAD v3:
4-101126919-A-G
gnomAD v4:
4-101126919-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101126919A>G , CM000666.2:g.101126919A>G | GRCh38 |
| NC_000004.11:g.102048076A>G , CM000666.1:g.102048076A>G | GRCh37 |
| NC_000004.10:g.102267099A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394854.8:c.260-17841T>C MANE Select | ENSP00000378323.3:n.260-17841T>C | |
| ENST00000323055.10:c.260-17841T>C | ENSP00000320580.6:n.260-17841T>C | |
| ENST00000394853.8:c.260-17841T>C | ENSP00000378322.4:n.260-17841T>C | |
| ENST00000394854.7:c.260-17841T>C | ENSP00000378323.3:n.260-17841T>C | |
| ENST00000492351.6:c.157-17841T>C | ENSP00000426565.1:n.157-17841T>C | |
| ENST00000507176.5:c.-35-17841T>C | ENSP00000422990.1:n.-35-17841T>C | |
| ENST00000510292.1:n.151-17841T>C | ||
| ENST00000512215.5:c.260-63562T>C | ENSP00000422781.1:n.260-63562T>C | |
| ENST00000525819.1:c.110-17841T>C | ENSP00000434599.1:n.110-17841T>C | |
| ENST00000529324.5:c.110-17841T>C | ENSP00000431619.1:n.110-17841T>C | |
| NM_000944.4:c.260-17841T>C | NP_000935.1:n.260-17841T>C | |
| NM_001130691.1:c.260-17841T>C | NP_001124163.1:n.260-17841T>C | |
| NM_001130692.1:c.260-17841T>C | NP_001124164.1:n.260-17841T>C | |
| XM_017008365.1:c.224-17841T>C | XP_016863854.1:n.224-17841T>C | |
| XM_024454127.1:c.110-17841T>C | XP_024309895.1:n.110-17841T>C | |
| NM_000944.5:c.260-17841T>C MANE Select | NP_000935.1:n.260-17841T>C | |
| NM_001130691.2:c.260-17841T>C | NP_001124163.1:n.260-17841T>C | |
| NM_001130692.2:c.260-17841T>C | NP_001124164.1:n.260-17841T>C |