Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33070869T>C , CM000683.2:g.33070869T>C | GRCh38 |
| NC_000021.8:g.34443175T>C , CM000683.1:g.34443175T>C | GRCh37 |
| NC_000021.7:g.33365045T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138983.3:c.623T>C MANE Select | NP_620450.2:p.Val208Ala |
| ENST00000382348.2:c.623T>C MANE Select | ENSP00000371785.1:p.Val208Ala |
| NM_138983.2:c.623T>C | NP_620450.2:p.Val208Ala |
| ENST00000382348.1:c.623T>C | ENSP00000371785.1:p.Val208Ala |