Linked Data
dbSNP Id:
rs2659546
gnomAD v2:
4-102037719-C-T
gnomAD v3:
4-101116562-C-T
gnomAD v4:
4-101116562-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101116562C>T , CM000666.2:g.101116562C>T | GRCh38 |
| NC_000004.11:g.102037719C>T , CM000666.1:g.102037719C>T | GRCh37 |
| NC_000004.10:g.102256742C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394854.8:c.260-7484G>A MANE Select | ENSP00000378323.3:n.260-7484G>A | |
| ENST00000323055.10:c.260-7484G>A | ENSP00000320580.6:n.260-7484G>A | |
| ENST00000394853.8:c.260-7484G>A | ENSP00000378322.4:n.260-7484G>A | |
| ENST00000394854.7:c.260-7484G>A | ENSP00000378323.3:n.260-7484G>A | |
| ENST00000492351.6:c.157-7484G>A | ENSP00000426565.1:n.157-7484G>A | |
| ENST00000507176.5:c.-35-7484G>A | ENSP00000422990.1:n.-35-7484G>A | |
| ENST00000510292.1:n.151-7484G>A | ||
| ENST00000512215.5:c.260-53205G>A | ENSP00000422781.1:n.260-53205G>A | |
| ENST00000525819.1:c.110-7484G>A | ENSP00000434599.1:n.110-7484G>A | |
| ENST00000529324.5:c.110-7484G>A | ENSP00000431619.1:n.110-7484G>A | |
| NM_000944.4:c.260-7484G>A | NP_000935.1:n.260-7484G>A | |
| NM_001130691.1:c.260-7484G>A | NP_001124163.1:n.260-7484G>A | |
| NM_001130692.1:c.260-7484G>A | NP_001124164.1:n.260-7484G>A | |
| XM_017008365.1:c.224-7484G>A | XP_016863854.1:n.224-7484G>A | |
| XM_024454127.1:c.110-7484G>A | XP_024309895.1:n.110-7484G>A | |
| NM_000944.5:c.260-7484G>A MANE Select | NP_000935.1:n.260-7484G>A | |
| NM_001130691.2:c.260-7484G>A | NP_001124163.1:n.260-7484G>A | |
| NM_001130692.2:c.260-7484G>A | NP_001124164.1:n.260-7484G>A |