Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48345141A>G , CM000675.2:g.48345141A>G | GRCh38 |
| NC_000013.10:g.48919277A>G , CM000675.1:g.48919277A>G | GRCh37 |
| NC_000013.9:g.47817278A>G | NCBI36 |
| NG_009009.1:g.46395A>G , LRG_517:g.46395A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.442A>G MANE Select | NP_000312.2:p.Met148Val |
| ENST00000267163.6:c.442A>G MANE Select | ENSP00000267163.4:p.Met148Val |
| NM_000321.2:c.442A>G , LRG_517t1:c.442A>G | NP_000312.2:p.Met148Val |
| ENST00000267163.4:c.442A>G | ENSP00000267163.4:p.Met148Val |
| ENST00000467505.5:c.138-14876A>G | ENSP00000434702.1:n.138-14876A>G |
| ENST00000525036.1:n.604A>G | |
| ENST00000650461.1:c.442A>G | ENSP00000497193.1:p.Met148Val |
| XM_011535171.1:c.181A>G | XP_011533473.1:p.Met61Val |
| XM_011535171.2:c.181A>G | XP_011533473.1:p.Met61Val |