Linked Data
dbSNP Id:
rs558136553
gnomAD v2:
9-139571292-G-T
gnomAD v3:
9-136676840-G-T
gnomAD v4:
9-136676840-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136676840G>T , CM000671.2:g.136676840G>T | GRCh38 |
| NC_000009.11:g.139571292G>T , CM000671.1:g.139571292G>T | GRCh37 |
| NC_000009.10:g.138691113G>T | NCBI36 |
| NG_008090.1:g.15620C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.492+121C>A MANE Select | ENSP00000360761.2:n.492+121C>A | |
| ENST00000371694.7:c.492+121C>A | ENSP00000360759.3:n.492+121C>A | |
| ENST00000371696.6:c.492+121C>A | ENSP00000360761.2:n.492+121C>A | |
| ENST00000472820.1:n.420+121C>A | ||
| ENST00000538402.1:c.492+121C>A | ENSP00000438919.1:n.492+121C>A | |
| NM_001012727.1:c.492+121C>A | NP_001012745.1:n.492+121C>A | |
| NM_006412.3:c.492+121C>A | NP_006403.2:n.492+121C>A | |
| NM_006412.4:c.492+121C>A MANE Select | NP_006403.2:n.492+121C>A | |
| NM_001012727.2:c.492+121C>A | NP_001012745.1:n.492+121C>A |