Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69348448G>T , CM000674.2:g.69348448G>T | GRCh38 |
| NC_000012.11:g.69742228G>T , CM000674.1:g.69742228G>T | GRCh37 |
| NC_000012.10:g.68028495G>T | NCBI36 |
| NG_008195.1:g.5095G>T , LRG_768:g.5095G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000239.3:c.40G>T MANE Select | NP_000230.1:p.Val14Phe |
| ENST00000261267.7:c.40G>T MANE Select | ENSP00000261267.2:p.Val14Phe |
| NM_000239.2:c.40G>T , LRG_768t1:c.40G>T | NP_000230.1:p.Val14Phe |
| ENST00000261267.6:c.40G>T | ENSP00000261267.2:p.Val14Phe |
| ENST00000548839.1:c.40G>T | ENSP00000449969.1:p.Val14Phe |
| ENST00000549690.1:c.40G>T | ENSP00000449898.1:p.Val14Phe |