Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005953A>T , CM000664.2:g.20005953A>T | GRCh38 |
| NC_000002.11:g.20205714A>T , CM000664.1:g.20205714A>T | GRCh37 |
| NC_000002.10:g.20069195A>T | NCBI36 |
| NG_008087.1:g.11742T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407540.8:c.581T>A MANE Select | ENSP00000383894.3:p.Val194Asp | |
| ENST00000407540.7:c.581T>A | ENSP00000383894.3:p.Val194Asp | |
| ENST00000421259.2:c.581T>A | ENSP00000398753.2:p.Val194Asp | |
| NM_002381.4:c.581T>A | NP_002372.1:p.Val194Asp | |
| NM_002381.5:c.581T>A MANE Select | NP_002372.1:p.Val194Asp |