Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755673A>G , CM000679.2:g.43755673A>G | GRCh38 |
| NC_000017.10:g.41833041A>G , CM000679.1:g.41833041A>G | GRCh37 |
| NC_000017.9:g.39188567A>G | NCBI36 |
| NG_008078.2:g.8116T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.311T>C MANE Select | ENSP00000301691.1:p.Val104Ala | |
| ENST00000301691.2:c.311T>C | ENSP00000301691.1:p.Val104Ala | |
| NM_025237.2:c.311T>C | NP_079513.1:p.Val104Ala | |
| NM_025237.3:c.311T>C MANE Select | NP_079513.1:p.Val104Ala |