ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000293 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
MyVariant.info:
GRCh38
chr19:g.54174243T>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54174243T>C , CM000681.2:g.54174243T>C | GRCh38 |
| NC_000019.8:g.59369749T>C | NCBI36 |
| NG_033045.2:g.20633A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245615.6:c.1220A>G MANE Select | ENSP00000245615.1:p.Tyr407Cys | |
| ENST00000245615.5:c.1220A>G | ENSP00000245615.1:p.Tyr407Cys | |
| ENST00000338624.10:c.1001A>G | ENSP00000344377.5:p.Tyr334Cys | |
| ENST00000431666.6:c.1001A>G | ENSP00000410503.2:p.Tyr334Cys | |
| ENST00000437868.5:c.*880A>G | ENSP00000404915.1:n.*880A>G | |
| ENST00000449249.5:c.538A>G | ENSP00000406794.1:n.538A>G | |
| ENST00000494142.1:n.2215A>G | ||
| NM_001146056.2:c.1001A>G | NP_001139528.1:p.Tyr334Cys | |
| NM_001146083.2:c.1001A>G | NP_001139555.1:p.Tyr334Cys | |
| NM_024298.4:c.1220A>G | NP_077274.3:p.Tyr407Cys | |
| XM_011527299.1:c.1220A>G | XP_011525601.1:p.Tyr407Cys | |
| XM_011527300.1:c.1220A>G | XP_011525602.1:p.Tyr407Cys | |
| XM_011527299.3:c.1220A>G | XP_011525601.1:p.Tyr407Cys | |
| XM_011527300.2:c.1220A>G | XP_011525602.1:p.Tyr407Cys | |
| NM_024298.5:c.1220A>G MANE Select | NP_077274.3:p.Tyr407Cys | |
| NM_001146056.3:c.1001A>G | NP_001139528.1:p.Tyr334Cys | |
| NM_001146083.3:c.1001A>G | NP_001139555.1:p.Tyr334Cys |