Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39582667T>C , CM000677.2:g.39582667T>C | GRCh38 |
| NC_000015.9:g.39874868T>C , CM000677.1:g.39874868T>C | GRCh37 |
| NC_000015.8:g.37662160T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260356.6:c.542T>C MANE Select | ENSP00000260356.5:p.Val181Ala | |
| ENST00000260356.5:c.542T>C | ENSP00000260356.5:p.Val181Ala | |
| NM_003246.2:c.542T>C | NP_003237.2:p.Val181Ala | |
| NM_003246.3:c.542T>C | NP_003237.2:p.Val181Ala | |
| XM_011521970.1:c.542T>C | XP_011520272.1:p.Val181Ala | |
| XM_011521971.1:c.542T>C | XP_011520273.1:p.Val181Ala | |
| XR_931897.1:n.717T>C | ||
| XM_011521971.2:c.542T>C | XP_011520273.1:p.Val181Ala | |
| NM_003246.4:c.542T>C MANE Select | NP_003237.2:p.Val181Ala |