Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37772708T>C , CM000684.2:g.37772708T>C | GRCh38 |
| NC_000022.10:g.38168715T>C , CM000684.1:g.38168715T>C | GRCh37 |
| NC_000022.9:g.36498661T>C | NCBI36 |
| NG_012857.1:g.80721T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.7044T>C MANE Select | ENSP00000496394.1:p.Leu2348= | |
| ENST00000344404.10:c.*6527T>C | ENSP00000340312.6:n.*6527T>C | |
| ENST00000403663.6:c.1905T>C | ENSP00000386026.2:p.Leu635= | |
| ENST00000406386.7:c.7044T>C | ENSP00000384312.3:p.Leu2348= | |
| NM_001039141.2:c.7044T>C | NP_001034230.1:p.Leu2348= | |
| NM_007032.5:c.1905T>C | NP_008963.3:p.Leu635= | |
| NM_001039141.3:c.7044T>C MANE Select | NP_001034230.1:p.Leu2348= |