Linked Data
ClinVar Variation Id:
1256490
ClinVar RCV Id:
RCV001663832
dbSNP Id:
rs75617410
ExAC:
19:15298136 C / T
gnomAD v2:
19-15298136-C-T
gnomAD v3:
19-15187325-C-T
gnomAD v4:
19-15187325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15187325C>T , CM000681.2:g.15187325C>T | GRCh38 |
| NC_000019.9:g.15298136C>T , CM000681.1:g.15298136C>T | GRCh37 |
| NC_000019.8:g.15159136C>T | NCBI36 |
| NG_009819.1:g.18657G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.1620G>A MANE Select | ENSP00000263388.1:p.Thr540= | |
| ENST00000263388.6:c.1620G>A | ENSP00000263388.1:p.Thr540= | |
| ENST00000601011.1:c.1617G>A | ENSP00000473138.1:p.Thr539= | |
| NM_000435.2:c.1620G>A | NP_000426.2:p.Thr540= | |
| XM_005259924.3:c.1620G>A | XP_005259981.1:p.Thr540= | |
| XM_005259924.4:c.1620G>A | XP_005259981.1:p.Thr540= | |
| NM_000435.3:c.1620G>A MANE Select | NP_000426.2:p.Thr540= |