Linked Data
ClinVar Variation Id:
386036
dbSNP Id:
rs374377836
ExAC:
19:10886599 G / T
gnomAD v2:
19-10886599-G-T
gnomAD v3:
19-10775923-G-T
gnomAD v4:
19-10775923-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10775923G>T , CM000681.2:g.10775923G>T | GRCh38 |
| NC_000019.9:g.10886599G>T , CM000681.1:g.10886599G>T | GRCh37 |
| NC_000019.8:g.10747599G>T | NCBI36 |
| NG_008792.1:g.62845G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.777+17G>T | ||
| ENST00000682524.1:n.777+17G>T | ||
| ENST00000683738.1:n.777+17G>T | ||
| ENST00000355667.11:c.589+17G>T | ENSP00000347890.6:n.589+17G>T | |
| ENST00000389253.9:c.589+17G>T MANE Select | ENSP00000373905.4:n.589+17G>T | |
| ENST00000355667.10:c.589+17G>T | ENSP00000347890.6:n.589+17G>T | |
| ENST00000359692.10:c.589+17G>T | ENSP00000352721.6:n.589+17G>T | |
| ENST00000389253.8:c.589+17G>T | ENSP00000373905.3:n.589+17G>T | |
| ENST00000408974.8:c.589+17G>T | ENSP00000386192.3:n.589+17G>T | |
| ENST00000585892.5:c.589+17G>T | ENSP00000468734.1:n.589+17G>T | |
| ENST00000586939.5:c.115+17G>T | ENSP00000467430.1:n.115+17G>T | |
| ENST00000591819.1:n.512+17G>T | ||
| NM_001005360.2:c.589+17G>T | NP_001005360.1:n.589+17G>T | |
| NM_001005361.2:c.589+17G>T | NP_001005361.1:n.589+17G>T | |
| NM_001005362.2:c.589+17G>T | NP_001005362.1:n.589+17G>T | |
| NM_001190716.1:c.589+17G>T | NP_001177645.1:n.589+17G>T | |
| NM_004945.3:c.589+17G>T | NP_004936.2:n.589+17G>T | |
| NM_001005361.3:c.589+17G>T MANE Select | NP_001005361.1:n.589+17G>T | |
| NM_001190716.2:c.589+17G>T | NP_001177645.1:n.589+17G>T | |
| NM_001005360.3:c.589+17G>T | NP_001005360.1:n.589+17G>T | |
| NM_001005362.3:c.589+17G>T | NP_001005362.1:n.589+17G>T | |
| NM_004945.4:c.589+17G>T | NP_004936.2:n.589+17G>T |