Linked Data
dbSNP Id:
rs754330008
ExAC:
4:158058029 C / G
gnomAD v2:
4-158058029-C-G
gnomAD v4:
4-157136877-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.157136877C>G , CM000666.2:g.157136877C>G | GRCh38 |
| NC_000004.11:g.158058029C>G , CM000666.1:g.158058029C>G | GRCh37 |
| NC_000004.10:g.158277479C>G | NCBI36 |
| NG_015823.1:g.65753C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264428.9:c.601C>G MANE Select | ENSP00000264428.4:p.Leu201Val | |
| ENST00000264428.8:c.601C>G | ENSP00000264428.4:p.Leu201Val | |
| ENST00000506411.5:c.*521C>G | ENSP00000422039.1:n.*521C>G | |
| ENST00000509282.1:c.601C>G | ENSP00000427186.1:p.Leu201Val | |
| ENST00000510970.1:n.408C>G | ||
| ENST00000512619.5:c.123-33555C>G | ENSP00000425433.1:n.123-33555C>G | |
| ENST00000541722.5:c.601C>G | ENSP00000441873.1:p.Leu201Val | |
| NM_000824.4:c.601C>G | NP_000815.1:p.Leu201Val | |
| NM_001166060.1:c.601C>G | NP_001159532.1:p.Leu201Val | |
| NM_001166061.1:c.601C>G | NP_001159533.1:p.Leu201Val | |
| XM_011531876.1:c.307C>G | XP_011530178.1:p.Leu103Val | |
| XM_017008034.1:c.307C>G | XP_016863523.1:p.Leu103Val | |
| XM_017008035.2:c.601C>G | XP_016863524.1:p.Leu201Val | |
| XR_001741207.2:n.782C>G | ||
| XR_002959723.1:n.782C>G | ||
| NM_000824.5:c.601C>G MANE Select | NP_000815.1:p.Leu201Val | |
| NM_001166060.2:c.601C>G | NP_001159532.1:p.Leu201Val | |
| NM_001166061.2:c.601C>G | NP_001159533.1:p.Leu201Val |