Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42544222T>C , CM000679.2:g.42544222T>C | GRCh38 |
| NC_000017.10:g.40696240T>C , CM000679.1:g.40696240T>C | GRCh37 |
| NC_000017.9:g.37949766T>C | NCBI36 |
| NG_011552.1:g.13290T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.2216T>C MANE Select | ENSP00000225927.1:p.Val739Ala | |
| ENST00000225927.6:c.2216T>C | ENSP00000225927.1:p.Val739Ala | |
| NM_000263.3:c.2216T>C | NP_000254.2:p.Val739Ala | |
| XM_006721920.2:c.1385T>C | XP_006721983.1:p.Val462Ala | |
| XM_011524840.1:c.1217T>C | XP_011523142.1:p.Val406Ala | |
| XM_017024687.1:c.1385T>C | XP_016880176.1:p.Val462Ala | |
| XM_024450771.1:c.2273T>C | XP_024306539.1:p.Val758Ala | |
| XM_024450772.1:c.1217T>C | XP_024306540.1:p.Val406Ala | |
| NM_000263.4:c.2216T>C MANE Select | NP_000254.2:p.Val739Ala |