Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94768983A>G , CM000676.2:g.94768983A>G | GRCh38 |
| NC_000014.8:g.95235320A>G , CM000676.1:g.95235320A>G | GRCh37 |
| NC_000014.7:g.94305073A>G | NCBI36 |
| NG_034111.1:g.6180T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173849.3:c.590T>C MANE Select | NP_776248.1:p.Val197Ala |
| ENST00000238558.5:c.590T>C MANE Select | ENSP00000238558.3:p.Val197Ala |
| NM_173849.2:c.590T>C | NP_776248.1:p.Val197Ala |
| ENST00000238558.4:c.590T>C | ENSP00000238558.3:p.Val197Ala |