Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018914C>T , CM000663.2:g.17018914C>T | GRCh38 |
| NC_000001.10:g.17345409C>T , CM000663.1:g.17345409C>T | GRCh37 |
| NC_000001.9:g.17217996C>T | NCBI36 |
| NG_012340.1:g.40257G>A , LRG_316:g.40257G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.810G>A MANE Select | NP_002991.2:p.Met270Ile |
| ENST00000375499.8:c.810G>A MANE Select | ENSP00000364649.3:p.Met270Ile |
| NM_003000.2:c.810G>A , LRG_316t1:c.810G>A | NP_002991.2:p.Met270Ile |
| ENST00000375499.7:c.810G>A | ENSP00000364649.3:p.Met270Ile |
| ENST00000463045.3:c.639G>A | ENSP00000481376.2:p.Met213Ile |
| ENST00000475049.5:n.235G>A | |
| ENST00000485092.5:n.474G>A | |
| ENST00000491274.6:c.768G>A | ENSP00000480482.2:p.Met256Ile |