Linked Data
dbSNP Id:
rs1226938327
gnomAD v2:
9-139568080-C-A
gnomAD v3:
9-136673628-C-A
gnomAD v4:
9-136673628-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673628C>A , CM000671.2:g.136673628C>A | GRCh38 |
| NC_000009.11:g.139568080C>A , CM000671.1:g.139568080C>A | GRCh37 |
| NC_000009.10:g.138687901C>A | NCBI36 |
| NG_008090.1:g.18832G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.*124G>T MANE Select | ENSP00000360761.2:n.*124G>T | |
| ENST00000371694.7:c.*124G>T | ENSP00000360759.3:n.*124G>T | |
| ENST00000371696.6:c.*124G>T | ENSP00000360761.2:n.*124G>T | |
| ENST00000538402.1:c.*124G>T | ENSP00000438919.1:n.*124G>T | |
| NM_001012727.1:c.*124G>T | NP_001012745.1:n.*124G>T | |
| NM_006412.3:c.*124G>T | NP_006403.2:n.*124G>T | |
| NM_006412.4:c.*124G>T MANE Select | NP_006403.2:n.*124G>T | |
| NM_001012727.2:c.*124G>T | NP_001012745.1:n.*124G>T |