Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154984726T>C , CM000685.2:g.154984726T>C | GRCh38 |
| NC_000023.10:g.154213001T>C , CM000685.1:g.154213001T>C | GRCh37 |
| NC_000023.9:g.153866195T>C | NCBI36 |
| NG_011403.1:g.42998A>G | |
| NG_011403.2:g.42998A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.748A>G MANE Select | NP_000123.1:p.Met250Val |
| ENST00000360256.9:c.748A>G MANE Select | ENSP00000353393.4:p.Met250Val |
| NM_000132.3:c.748A>G | NP_000123.1:p.Met250Val |
| ENST00000360256.8:c.748A>G | ENSP00000353393.4:p.Met250Val |
| ENST00000423959.5:c.643A>G | ENSP00000409446.1:p.Met215Val |
| ENST00000647125.1:c.*534A>G | ENSP00000496062.1:n.*534A>G |
| XM_011531126.1:c.643A>G | XP_011529428.1:p.Met215Val |