Linked Data
dbSNP Id:
rs1028127898
gnomAD v2:
9-139569370-G-A
gnomAD v3:
9-136674918-G-A
gnomAD v4:
9-136674918-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674918G>A , CM000671.2:g.136674918G>A | GRCh38 |
| NC_000009.11:g.139569370G>A , CM000671.1:g.139569370G>A | GRCh37 |
| NC_000009.10:g.138689191G>A | NCBI36 |
| NG_008090.1:g.17542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.589-111C>T MANE Select | ENSP00000360761.2:n.589-111C>T | |
| ENST00000371694.7:c.493-111C>T | ENSP00000360759.3:n.493-111C>T | |
| ENST00000371696.6:c.589-111C>T | ENSP00000360761.2:n.589-111C>T | |
| ENST00000472820.1:n.517-111C>T | ||
| ENST00000538402.1:c.589-111C>T | ENSP00000438919.1:n.589-111C>T | |
| NM_001012727.1:c.493-111C>T | NP_001012745.1:n.493-111C>T | |
| NM_006412.3:c.589-111C>T | NP_006403.2:n.589-111C>T | |
| NM_006412.4:c.589-111C>T MANE Select | NP_006403.2:n.589-111C>T | |
| NM_001012727.2:c.493-111C>T | NP_001012745.1:n.493-111C>T |