Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701884A>G , CM000669.2:g.107701884A>G | GRCh38 |
| NC_000007.13:g.107342329A>G , CM000669.1:g.107342329A>G | GRCh37 |
| NC_000007.12:g.107129565A>G | NCBI36 |
| NG_008489.1:g.46250A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.1861A>G MANE Select | NP_000432.1:p.Ile621Val |
| ENST00000644269.2:c.1861A>G MANE Select | ENSP00000494017.1:p.Ile621Val |
| NM_000441.1:c.1861A>G | NP_000432.1:p.Ile621Val |
| ENST00000265715.7:c.1861A>G | ENSP00000265715.3:p.Ile621Val |
| ENST00000480841.5:n.710A>G | |
| ENST00000492030.2:n.148A>G | |
| ENST00000644846.1:c.572A>G | |
| XM_005250425.1:c.1861A>G | XP_005250482.1:p.Ile621Val |
| XM_005250425.2:c.1861A>G | XP_005250482.1:p.Ile621Val |
| XM_017012318.1:c.1783A>G | XP_016867807.1:p.Ile595Val |