Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837603G>C , CM000685.2:g.154837603G>C | GRCh38 |
| NC_000023.10:g.154065878G>C , CM000685.1:g.154065878G>C | GRCh37 |
| NC_000023.9:g.153719072G>C | NCBI36 |
| NG_011403.1:g.190121C>G | |
| NG_033065.1:g.2060C>G | |
| NG_011403.2:g.190121C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.7050C>G MANE Select | NP_000123.1:p.Leu2350= |
| ENST00000360256.9:c.7050C>G MANE Select | ENSP00000353393.4:p.Leu2350= |
| NM_000132.3:c.7050C>G | NP_000123.1:p.Leu2350= |
| NM_019863.2:c.645C>G | NP_063916.1:p.Leu215= |
| NM_019863.3:c.645C>G | NP_063916.1:p.Leu215= |
| ENST00000330287.10:c.645C>G | ENSP00000327895.6:p.Leu215= |
| ENST00000360256.8:c.7050C>G | ENSP00000353393.4:p.Leu2350= |
| ENST00000644698.1:c.783C>G | ENSP00000495706.1:p.Leu261= |
| XM_011531126.1:c.6945C>G | XP_011529428.1:p.Leu2315= |