Linked Data
dbSNP Id:
rs763874860
ExAC:
19:45910370 G / A
gnomAD v2:
19-45910370-G-A
gnomAD v3:
19-45407112-G-A
gnomAD v4:
19-45407112-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45407112G>A , CM000681.2:g.45407112G>A | GRCh38 |
| NC_000019.9:g.45910370G>A , CM000681.1:g.45910370G>A | GRCh37 |
| NC_000019.8:g.50602210G>A | NCBI36 |
| NG_015839.2:g.76717C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309424.8:c.41G>A MANE Select | ENSP00000310966.3:p.Cys14Tyr | |
| ENST00000309424.7:c.41G>A | ENSP00000310966.3:p.Cys14Tyr | |
| ENST00000589804.1:c.47G>A | ENSP00000465099.1:p.Cys16Tyr | |
| ENST00000590794.1:c.20+394G>A | ||
| ENST00000592852.1:c.-494G>A | ENSP00000467771.1:n.-494G>A | |
| NM_001297590.1:c.47G>A | NP_001284519.1:p.Cys16Tyr | |
| NM_012099.1:c.41G>A | NP_036231.1:p.Cys14Tyr | |
| NM_001297590.2:c.47G>A | NP_001284519.1:p.Cys16Tyr | |
| NM_012099.2:c.41G>A | NP_036231.1:p.Cys14Tyr | |
| NM_001297590.3:c.47G>A | NP_001284519.1:p.Cys16Tyr | |
| NM_012099.3:c.41G>A MANE Select | NP_036231.1:p.Cys14Tyr |