Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.170283029C>A , CM000668.2:g.170283029C>A | GRCh38 |
| NC_000006.11:g.170592117C>A , CM000668.1:g.170592117C>A | GRCh37 |
| NC_000006.10:g.170434042C>A | NCBI36 |
| NG_027940.1:g.12581G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005618.4:c.2125G>T MANE Select | NP_005609.3:p.Val709Phe |
| ENST00000366756.4:c.2125G>T MANE Select | ENSP00000355718.3:p.Val709Phe |
| NM_005618.3:c.2125G>T | NP_005609.3:p.Val709Phe |
| ENST00000366756.3:c.2125G>T | ENSP00000355718.3:p.Val709Phe |
| XM_005266934.2:c.1528G>T | XP_005266991.1:p.Val510Phe |
| XM_005266934.4:c.1528G>T | XP_005266991.1:p.Val510Phe |
| XM_011535758.1:c.2125G>T | XP_011534060.1:p.Val709Phe |