Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215799120C>G , CM000663.2:g.215799120C>G | GRCh38 |
| NC_000001.10:g.215972462C>G , CM000663.1:g.215972462C>G | GRCh37 |
| NC_000001.9:g.214039085C>G | NCBI36 |
| NG_009497.1:g.629277G>C | |
| NG_009497.2:g.629329G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9745G>C MANE Select | ENSP00000305941.3:p.Val3249Leu | |
| ENST00000674083.1:c.9745G>C | ENSP00000501296.1:p.Val3249Leu | |
| ENST00000307340.7:c.9745G>C | ENSP00000305941.3:p.Val3249Leu | |
| NM_206933.2:c.9745G>C | NP_996816.2:p.Val3249Leu | |
| NM_206933.3:c.9745G>C | NP_996816.2:p.Val3249Leu | |
| NM_206933.4:c.9745G>C MANE Select | NP_996816.3:p.Val3249Leu |