Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.170108564G>A , CM000667.2:g.170108564G>A | GRCh38 |
| NC_000005.9:g.169535568G>A , CM000667.1:g.169535568G>A | GRCh37 |
| NC_000005.8:g.169468146G>A | NCBI36 |
| NG_012068.1:g.7652G>A | |
| NG_012068.2:g.7652G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012188.5:c.1090G>A MANE Select | NP_036320.2:p.Val364Ile |
| ENST00000306268.8:c.1090G>A MANE Select | ENSP00000304286.5:p.Val364Ile |
| NM_012188.4:c.1090G>A | NP_036320.2:p.Val364Ile |
| NM_144769.2:c.805G>A | NP_658982.1:p.Val269Ile |
| NM_144769.3:c.805G>A | NP_658982.1:p.Val269Ile |
| NM_144769.4:c.805G>A | NP_658982.1:p.Val269Ile |
| ENST00000306268.6:c.1090G>A | ENSP00000304286.5:p.Val364Ile |
| ENST00000449804.3:c.805G>A | ENSP00000415483.2:p.Val269Ile |
| ENST00000449804.4:c.805G>A | ENSP00000415483.2:p.Val269Ile |