Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62447397T>C , CM000663.2:g.62447397T>C | GRCh38 |
| NC_000001.10:g.62913068T>C , CM000663.1:g.62913068T>C | GRCh37 |
| NC_000001.9:g.62685656T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339950.5:c.1306T>C MANE Select | ENSP00000343526.4:p.Leu436= | |
| ENST00000339950.4:c.1306T>C | ENSP00000343526.4:p.Leu436= | |
| ENST00000371146.5:c.1306T>C | ENSP00000360188.1:p.Leu436= | |
| NM_001017415.1:c.1306T>C | NP_001017415.1:p.Leu436= | |
| NM_001017416.1:c.1306T>C | NP_001017416.1:p.Leu436= | |
| NM_003368.4:c.1306T>C | NP_003359.3:p.Leu436= | |
| NM_003368.5:c.1306T>C MANE Select | NP_003359.3:p.Leu436= | |
| NM_001017415.2:c.1306T>C | NP_001017415.1:p.Leu436= | |
| NM_001017416.2:c.1306T>C | NP_001017416.1:p.Leu436= |