Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197705989T>C , CM000664.2:g.197705989T>C | GRCh38 |
| NC_000002.11:g.198570713T>C , CM000664.1:g.198570713T>C | GRCh37 |
| NC_000002.10:g.198278958T>C | NCBI36 |
| NG_034122.1:g.5686T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282276.8:c.584T>C MANE Select | ENSP00000282276.6:p.Val195Ala | |
| ENST00000282276.7:c.584T>C | ENSP00000282276.6:p.Val195Ala | |
| NM_138395.3:c.584T>C | NP_612404.1:p.Val195Ala | |
| NM_138395.4:c.584T>C MANE Select | NP_612404.1:p.Val195Ala |