Linked Data
dbSNP Id:
rs1328145662
gnomAD v2:
19-7755391-G-C
gnomAD v3:
19-7690505-G-C
gnomAD v4:
19-7690505-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7690505G>C , CM000681.2:g.7690505G>C | GRCh38 |
| NC_000019.9:g.7755391G>C , CM000681.1:g.7755391G>C | GRCh37 |
| NC_000019.8:g.7661391G>C | NCBI36 |
| NG_029554.1:g.16642C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597921.6:c.522C>G MANE Select | ENSP00000471974.1:p.Cys174Trp | |
| ENST00000346664.9:c.522C>G | ENSP00000264072.6:p.Cys174Trp | |
| ENST00000360067.8:c.519C>G | ENSP00000353178.4:p.Cys173Trp | |
| ENST00000593418.1:c.459C>G | ENSP00000472067.1:p.Cys153Trp | |
| ENST00000597312.5:n.1047C>G | ||
| ENST00000597921.5:c.522C>G | ENSP00000471974.1:p.Cys174Trp | |
| ENST00000597934.1:n.884C>G | ||
| ENST00000598803.5:n.1017C>G | ||
| NM_001207019.2:c.519C>G | NP_001193948.2:p.Cys173Trp | |
| NM_001220500.1:c.522C>G | NP_001207429.1:p.Cys174Trp | |
| NM_002002.4:c.522C>G | NP_001993.2:p.Cys174Trp | |
| XM_005272462.3:c.522C>G | XP_005272519.1:p.Cys174Trp | |
| XM_005272462.4:c.522C>G | XP_005272519.1:p.Cys174Trp | |
| NM_001220500.2:c.522C>G MANE Select | NP_001207429.1:p.Cys174Trp | |
| NM_001207019.3:c.519C>G | NP_001193948.2:p.Cys173Trp | |
| NM_002002.5:c.522C>G | NP_001993.2:p.Cys174Trp |