ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63964600A>C , CM000679.2:g.63964600A>C | GRCh38 |
| NC_000017.10:g.62041960A>C , CM000679.1:g.62041960A>C | GRCh37 |
| NC_000017.9:g.59395692A>C | NCBI36 |
| NG_011699.1:g.13319T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1320T>G MANE Select | ENSP00000396320.1:p.Asn440Lys | |
| ENST00000578147.5:c.1320T>G | ENSP00000463963.1:p.Asn440Lys | |
| NM_000334.4:c.1320T>G MANE Select | NP_000325.4:p.Asn440Lys | |
| XM_005257566.3:c.1320T>G | XP_005257623.1:p.Asn440Lys | |
| XR_934910.1:n.226A>C | ||
| XR_001752969.1:n.1503A>C | ||
| XR_001752970.1:n.455A>C | ||
| XR_934910.2:n.1378A>C |