Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.3310612G>C , CM000685.2:g.3310612G>C | GRCh38 |
| NC_000023.10:g.3228653G>C , CM000685.1:g.3228653G>C | GRCh37 |
| NC_000023.9:g.3238653G>C | NCBI36 |
| NG_021336.1:g.41032C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217939.7:c.7591C>G MANE Select | ENSP00000217939.5:p.Leu2531Val | |
| ENST00000217939.6:c.7591C>G | ENSP00000217939.5:p.Leu2531Val | |
| NM_015419.3:c.7591C>G | NP_056234.2:p.Leu2531Val | |
| XM_005274485.1:c.7666C>G | XP_005274542.1:p.Leu2556Val | |
| NM_015419.4:c.7591C>G MANE Select | NP_056234.2:p.Leu2531Val |