Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48364948G>A , CM000675.2:g.48364948G>A | GRCh38 |
| NC_000013.10:g.48939084G>A , CM000675.1:g.48939084G>A | GRCh37 |
| NC_000013.9:g.47837085G>A | NCBI36 |
| NG_009009.1:g.66202G>A , LRG_517:g.66202G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.916G>A MANE Select | NP_000312.2:p.Val306Ile |
| ENST00000267163.6:c.916G>A MANE Select | ENSP00000267163.4:p.Val306Ile |
| NM_000321.2:c.916G>A , LRG_517t1:c.916G>A | NP_000312.2:p.Val306Ile |
| ENST00000267163.4:c.916G>A | ENSP00000267163.4:p.Val306Ile |
| ENST00000650461.1:c.916G>A | ENSP00000497193.1:p.Val306Ile |
| XM_011535171.1:c.655G>A | XP_011533473.1:p.Val219Ile |
| XM_011535171.2:c.655G>A | XP_011533473.1:p.Val219Ile |
| XR_002957522.1:n.150C>T |