Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64496470G>A , CM000679.2:g.64496470G>A | GRCh38 |
| NC_000017.10:g.62492588G>A , CM000679.1:g.62492588G>A | GRCh37 |
| NC_000017.9:g.59923050G>A | NCBI36 |
| NG_013029.1:g.5597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539111.7:c.499C>T MANE Select | ENSP00000442563.2:p.Leu167= | |
| ENST00000585104.2:n.470C>T | ||
| ENST00000671755.1:c.470C>T | ||
| ENST00000673460.1:c.470C>T | ||
| ENST00000539111.6:c.499C>T | ENSP00000442563.2:p.Leu167= | |
| ENST00000578997.1:c.224+62C>T | ENSP00000464389.1:n.224+62C>T | |
| ENST00000585141.5:n.550C>T | ||
| NM_007215.3:c.499C>T | NP_009146.2:p.Leu167= | |
| XM_006721651.2:c.499C>T | XP_006721714.1:p.Leu167= | |
| XR_243630.1:n.550C>T | ||
| XR_934357.1:n.550C>T | ||
| XR_934358.1:n.550C>T | ||
| NM_007215.4:c.499C>T MANE Select | NP_009146.2:p.Leu167= |