Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2228993T>C , CM000663.2:g.2228993T>C | GRCh38 |
| NC_000001.10:g.2160432T>C , CM000663.1:g.2160432T>C | GRCh37 |
| NC_000001.9:g.2150292T>C | NCBI36 |
| NG_013084.1:g.5299T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003036.4:c.227T>C MANE Select | NP_003027.1:p.Leu76Pro |
| ENST00000378536.5:c.227T>C MANE Select | ENSP00000367797.4:p.Leu76Pro |
| NM_003036.3:c.227T>C | NP_003027.1:p.Leu76Pro |
| ENST00000378536.4:c.227T>C | ENSP00000367797.4:p.Leu76Pro |
| ENST00000704337.1:n.137+1469T>C | |
| XM_005244775.2:c.227T>C | XP_005244832.1:p.Leu76Pro |
| XM_005244775.3:c.227T>C | XP_005244832.1:p.Leu76Pro |