Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648767A>C , CM000669.2:g.152648767A>C | GRCh38 |
| NC_000007.13:g.152345852A>C , CM000669.1:g.152345852A>C | GRCh37 |
| NC_000007.12:g.151976785A>C | NCBI36 |
| NG_027988.1:g.32399T>G | |
| NG_027988.2:g.32399T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.550T>G | ENSP00000513758.1:p.Phe184Val | |
| ENST00000359321.2:c.718T>G MANE Select | ENSP00000352271.1:p.Phe240Val | |
| ENST00000359321.1:c.718T>G | ENSP00000352271.1:p.Phe240Val | |
| ENST00000495707.1:n.740T>G | ||
| NM_005431.1:c.718T>G | NP_005422.1:p.Phe240Val | |
| NM_005431.2:c.718T>G MANE Select | NP_005422.1:p.Phe240Val |