Linked Data
dbSNP Id:
rs11639084
gnomAD v2:
15-61066516-C-T
gnomAD v3:
15-60774317-C-T
gnomAD v4:
15-60774317-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60774317C>T , CM000677.2:g.60774317C>T | GRCh38 |
| NC_000015.9:g.61066516C>T , CM000677.1:g.61066516C>T | GRCh37 |
| NC_000015.8:g.58853808C>T | NCBI36 |
| NG_029246.1:g.459987G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335670.11:c.167-95631G>A MANE Select | ENSP00000335087.6:n.167-95631G>A | |
| ENST00000335670.10:c.167-95631G>A | ENSP00000335087.6:n.167-95631G>A | |
| ENST00000551975.5:c.82-95631G>A | ||
| ENST00000557822.5:n.192-95631G>A | ||
| ENST00000559145.1:n.174-95631G>A | ||
| ENST00000561093.1:n.180-95631G>A | ||
| NM_134261.2:c.167-95631G>A | NP_599023.1:n.167-95631G>A | |
| XM_005254584.3:c.28+66753G>A | XP_005254641.1:n.28+66753G>A | |
| XM_011521876.1:c.35-95631G>A | XP_011520178.1:n.35-95631G>A | |
| XM_011521878.1:c.-327-95631G>A | XP_011520180.1:n.-327-95631G>A | |
| XM_005254584.5:c.28+66753G>A | XP_005254641.1:n.28+66753G>A | |
| XM_011521878.2:c.-327-95631G>A | XP_011520180.1:n.-327-95631G>A | |
| NM_134261.3:c.167-95631G>A MANE Select | NP_599023.1:n.167-95631G>A |