Linked Data
dbSNP Id:
rs17158483
gnomAD v2:
7-29962524-C-T
gnomAD v3:
7-29922908-C-T
gnomAD v4:
7-29922908-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29922908C>T , CM000669.2:g.29922908C>T | GRCh38 |
| NC_000007.13:g.29962524C>T , CM000669.1:g.29962524C>T | GRCh37 |
| NC_000007.12:g.29929049C>T | NCBI36 |
| NG_047114.1:g.72382G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242059.10:c.*1049G>A MANE Select | ENSP00000242059.5:n.*1049G>A | |
| ENST00000242059.9:c.*1049G>A | ENSP00000242059.5:n.*1049G>A | |
| ENST00000426154.5:c.*1049G>A | ENSP00000409068.1:n.*1049G>A | |
| NM_001145513.1:c.*1049G>A | NP_001138985.1:n.*1049G>A | |
| NM_001145514.1:c.*1049G>A | NP_001138986.1:n.*1049G>A | |
| NM_001145515.1:c.*1049G>A | NP_001138987.1:n.*1049G>A | |
| NM_014766.4:c.*1049G>A | NP_055581.3:n.*1049G>A | |
| XM_005249918.3:c.*1049G>A | XP_005249975.1:n.*1049G>A | |
| XM_011515653.1:c.*1049G>A | XP_011513955.1:n.*1049G>A | |
| XM_024447007.1:c.*1049G>A | XP_024302775.1:n.*1049G>A | |
| NM_014766.5:c.*1049G>A MANE Select | NP_055581.3:n.*1049G>A | |
| NM_001145515.2:c.*1049G>A | NP_001138987.1:n.*1049G>A |