Linked Data
ClinVar Variation Id:
447847
dbSNP Id:
rs748339634
ExAC:
19:15303018 G / A
gnomAD v2:
19-15303018-G-A
gnomAD v3:
19-15192207-G-A
gnomAD v4:
19-15192207-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192207G>A , CM000681.2:g.15192207G>A | GRCh38 |
| NC_000019.9:g.15303018G>A , CM000681.1:g.15303018G>A | GRCh37 |
| NC_000019.8:g.15164018G>A | NCBI36 |
| NG_009819.1:g.13775C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.432C>T MANE Select | ENSP00000263388.1:p.Cys144= | |
| ENST00000263388.6:c.432C>T | ENSP00000263388.1:p.Cys144= | |
| ENST00000601011.1:c.429C>T | ENSP00000473138.1:p.Cys143= | |
| NM_000435.2:c.432C>T | NP_000426.2:p.Cys144= | |
| XM_005259924.3:c.432C>T | XP_005259981.1:p.Cys144= | |
| XM_005259924.4:c.432C>T | XP_005259981.1:p.Cys144= | |
| NM_000435.3:c.432C>T MANE Select | NP_000426.2:p.Cys144= |