Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160130275T>C , CM000663.2:g.160130275T>C | GRCh38 |
| NC_000001.10:g.160100065T>C , CM000663.1:g.160100065T>C | GRCh37 |
| NC_000001.9:g.158366689T>C | NCBI36 |
| NG_008014.1:g.19518T>C , LRG_6:g.19518T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.1635T>C MANE Select | ENSP00000354490.3:p.Leu545= | |
| ENST00000361216.7:c.1635T>C | ENSP00000354490.3:p.Leu545= | |
| ENST00000392233.7:c.1635T>C | ENSP00000376066.3:p.Leu545= | |
| ENST00000447527.1:c.767T>C | ||
| ENST00000472488.5:n.1738T>C | ||
| NM_000702.3:c.1635T>C | NP_000693.1:p.Leu545= | |
| NM_000702.4:c.1635T>C MANE Select | NP_000693.1:p.Leu545= |