Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400760G>T , CM000670.2:g.18400760G>T | GRCh38 |
| NC_000008.10:g.18258270G>T , CM000670.1:g.18258270G>T | GRCh37 |
| NC_000008.9:g.18302550G>T | NCBI36 |
| NG_012246.1:g.14516G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.757G>T MANE Select | ENSP00000286479.3:p.Val253Phe | |
| ENST00000286479.3:c.757G>T | ENSP00000286479.3:p.Val253Phe | |
| ENST00000520116.1:c.367G>T | ENSP00000428416.1:p.Val123Phe | |
| NM_000015.2:c.757G>T | NP_000006.2:p.Val253Phe | |
| XM_011544358.1:c.757G>T | XP_011542660.1:p.Val253Phe | |
| XM_017012938.1:c.757G>T | XP_016868427.1:p.Val253Phe | |
| NM_000015.3:c.757G>T MANE Select | NP_000006.2:p.Val253Phe |