Linked Data
dbSNP Id:
rs17159614
gnomAD v2:
7-84725502-C-T
gnomAD v3:
7-85096186-C-T
gnomAD v4:
7-85096186-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.85096186C>T , CM000669.2:g.85096186C>T | GRCh38 |
| NC_000007.13:g.84725502C>T , CM000669.1:g.84725502C>T | GRCh37 |
| NC_000007.12:g.84563438C>T | NCBI36 |
| NG_051329.1:g.95670G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284136.11:c.312+1619G>A MANE Select | ENSP00000284136.6:n.312+1619G>A | |
| ENST00000284136.10:c.312+1619G>A | ENSP00000284136.6:n.312+1619G>A | |
| ENST00000444867.1:c.312+1619G>A | ENSP00000401366.1:n.312+1619G>A | |
| NM_152754.2:c.312+1619G>A | NP_689967.2:n.312+1619G>A | |
| XM_011515960.1:c.312+1619G>A | XP_011514262.1:n.312+1619G>A | |
| XM_011515961.1:c.-271+1619G>A | XP_011514263.1:n.-271+1619G>A | |
| XM_011515961.2:c.-271+1619G>A | XP_011514263.1:n.-271+1619G>A | |
| XM_017011873.1:c.312+1619G>A | XP_016867362.1:n.312+1619G>A | |
| NM_001384900.1:c.312+1619G>A MANE Select | NP_001371829.1:n.312+1619G>A | |
| NM_001384901.1:c.312+1619G>A | NP_001371830.1:n.312+1619G>A | |
| NM_001384902.1:c.312+1619G>A | NP_001371831.1:n.312+1619G>A | |
| NM_001384903.1:c.312+1619G>A | NP_001371832.1:n.312+1619G>A | |
| NM_152754.3:c.312+1619G>A | NP_689967.2:n.312+1619G>A |