Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1649143C= , CM000664.2:g.1649143C= | GRCh38 |
| NC_000002.11:g.1652915C= , CM000664.1:g.1652915C= | GRCh37 |
| NC_000002.10:g.1631922C= | NCBI36 |
| NG_034221.1:g.100405G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012293.3:c.2637G= MANE Select | NP_036425.1:p.Val879= |
| ENST00000252804.9:c.2637G= MANE Select | ENSP00000252804.4:p.Val879= |
| NM_012293.2:c.2637G= | NP_036425.1:p.Val879= |
| ENST00000252804.8:c.2637G= | ENSP00000252804.4:p.Val879= |
| ENST00000478155.5:n.2697-4391G= | |
| XM_005264707.2:c.2565G= | XP_005264764.1:p.Val855= |
| XM_005264707.3:c.2565G= | XP_005264764.1:p.Val855= |
| XM_011510395.1:c.2448G= | XP_011508697.1:p.Val816= |
| XM_011510396.1:c.2088G= | XP_011508698.1:p.Val696= |
| XM_011510397.1:c.2088G= | XP_011508699.1:p.Val696= |