Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.30215882C>T , CM000683.2:g.30215882C>T | GRCh38 |
| NC_000021.8:g.31588200C>T , CM000683.1:g.31588200C>T | GRCh37 |
| NC_000021.7:g.30510071C>T | NCBI36 |
| NG_050758.1:g.5270G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_199328.3:c.44G>A MANE Select | NP_955360.1:p.Gly15Asp |
| ENST00000399899.2:c.44G>A MANE Select | ENSP00000382783.1:p.Gly15Asp |
| NM_199328.2:c.44G>A | NP_955360.1:p.Gly15Asp |
| ENST00000399899.1:c.44G>A | ENSP00000382783.1:p.Gly15Asp |