Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48379639A>G , CM000675.2:g.48379639A>G | GRCh38 |
| NC_000013.10:g.48953775A>G , CM000675.1:g.48953775A>G | GRCh37 |
| NC_000013.9:g.47851776A>G | NCBI36 |
| NG_009009.1:g.80893A>G , LRG_517:g.80893A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1378A>G MANE Select | NP_000312.2:p.Met460Val |
| ENST00000267163.6:c.1378A>G MANE Select | ENSP00000267163.4:p.Met460Val |
| NM_000321.2:c.1378A>G , LRG_517t1:c.1378A>G | NP_000312.2:p.Met460Val |
| ENST00000267163.4:c.1378A>G | ENSP00000267163.4:p.Met460Val |
| ENST00000650461.1:c.1378A>G | ENSP00000497193.1:p.Met460Val |
| XM_011535171.1:c.1117A>G | XP_011533473.1:p.Met373Val |
| XM_011535171.2:c.1117A>G | XP_011533473.1:p.Met373Val |
| XR_002957522.1:n.40+196T>C |