Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147828079A>T , CM000667.2:g.147828079A>T | GRCh38 |
| NC_000005.9:g.147207642A>T , CM000667.1:g.147207642A>T | GRCh37 |
| NC_000005.8:g.147187835A>T | NCBI36 |
| NG_008356.2:g.16153T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296695.10:c.137T>A MANE Select | ENSP00000296695.5:p.Val46Asp | |
| ENST00000296695.9:c.137T>A | ENSP00000296695.5:p.Val46Asp | |
| ENST00000505722.1:n.52T>A | ||
| ENST00000510027.2:c.137T>A | ENSP00000427376.1:p.Val46Asp | |
| NM_003122.4:c.137T>A | NP_003113.2:p.Val46Asp | |
| NM_001354966.1:c.137T>A | NP_001341895.1:p.Val46Asp | |
| NM_001354966.2:c.137T>A | NP_001341895.1:p.Val46Asp | |
| NM_001379610.1:c.137T>A MANE Select | NP_001366539.1:p.Val46Asp | |
| NM_003122.5:c.137T>A | NP_003113.2:p.Val46Asp |