Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420716A>G , CM000666.2:g.99420716A>G | GRCh38 |
| NC_000004.11:g.100341873A>G , CM000666.1:g.100341873A>G | GRCh37 |
| NC_000004.10:g.100560896A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.642T>C MANE Select | ENSP00000414254.2:p.Ala214= | |
| ENST00000209665.8:c.678T>C | ENSP00000209665.4:p.Ala226= | |
| ENST00000437033.6:c.642T>C | ENSP00000414254.2:p.Ala214= | |
| ENST00000476959.5:c.702T>C | ENSP00000420269.1:p.Ala234= | |
| ENST00000482593.5:c.471T>C | ENSP00000420613.1:p.Ala157= | |
| NM_000673.4:c.678T>C | NP_000664.2:p.Ala226= | |
| NM_001166504.1:c.702T>C | NP_001159976.1:p.Ala234= | |
| NM_000673.7:c.642T>C MANE Select | NP_000664.3:p.Ala214= | |
| NM_001166504.2:c.702T>C | NP_001159976.1:p.Ala234= |