Linked Data
dbSNP Id:
rs12914272
gnomAD v2:
15-61062967-A-G
gnomAD v3:
15-60770768-A-G
gnomAD v4:
15-60770768-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60770768A>G , CM000677.2:g.60770768A>G | GRCh38 |
| NC_000015.9:g.61062967A>G , CM000677.1:g.61062967A>G | GRCh37 |
| NC_000015.8:g.58850259A>G | NCBI36 |
| NG_029246.1:g.463536T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335670.11:c.167-92082T>C MANE Select | ENSP00000335087.6:n.167-92082T>C | |
| ENST00000335670.10:c.167-92082T>C | ENSP00000335087.6:n.167-92082T>C | |
| ENST00000551975.5:c.82-92082T>C | ||
| ENST00000557822.5:n.192-92082T>C | ||
| ENST00000559145.1:n.174-92082T>C | ||
| ENST00000561093.1:n.180-92082T>C | ||
| NM_134261.2:c.167-92082T>C | NP_599023.1:n.167-92082T>C | |
| XM_005254584.3:c.28+70302T>C | XP_005254641.1:n.28+70302T>C | |
| XM_011521876.1:c.35-92082T>C | XP_011520178.1:n.35-92082T>C | |
| XM_011521878.1:c.-327-92082T>C | XP_011520180.1:n.-327-92082T>C | |
| XM_005254584.5:c.28+70302T>C | XP_005254641.1:n.28+70302T>C | |
| XM_011521878.2:c.-327-92082T>C | XP_011520180.1:n.-327-92082T>C | |
| NM_134261.3:c.167-92082T>C MANE Select | NP_599023.1:n.167-92082T>C |