Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6125175C>A , CM000663.2:g.6125175C>A | GRCh38 |
| NC_000001.10:g.6185235C>A , CM000663.1:g.6185235C>A | GRCh37 |
| NC_000001.9:g.6107822C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015557.3:c.4319G>T MANE Select | NP_056372.1:p.Gly1440Val |
| ENST00000262450.8:c.4319G>T MANE Select | ENSP00000262450.3:p.Gly1440Val |
| NM_015557.2:c.4319G>T | NP_056372.1:p.Gly1440Val |
| ENST00000262450.7:c.4319G>T | ENSP00000262450.3:p.Gly1440Val |
| ENST00000377999.5:c.1222G>T | ENSP00000367238.2:n.1222G>T |
| ENST00000462991.5:c.2466G>T | |
| ENST00000496404.1:c.3418-3602G>T | ENSP00000433676.1:n.3418-3602G>T |