Linked Data
dbSNP Id:
rs779703488
ExAC:
4:88967972 C / G
gnomAD v2:
4-88967972-C-G
gnomAD v4:
4-88046820-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88046820C>G , CM000666.2:g.88046820C>G | GRCh38 |
| NC_000004.11:g.88967972C>G , CM000666.1:g.88967972C>G | GRCh37 |
| NC_000004.10:g.89186996C>G | NCBI36 |
| NG_008604.1:g.44153C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1498C>G MANE Select | ENSP00000237596.2:p.Leu500Val | |
| ENST00000237596.6:c.1498C>G | ENSP00000237596.2:p.Leu500Val | |
| ENST00000508588.5:c.-199+3363C>G | ENSP00000427131.1:n.-199+3363C>G | |
| NM_000297.3:c.1498C>G | NP_000288.1:p.Leu500Val | |
| XM_011532028.1:c.1273C>G | XP_011530330.1:p.Leu425Val | |
| XM_011532029.1:c.778C>G | XP_011530331.1:p.Leu260Val | |
| XM_011532030.1:c.658C>G | XP_011530332.1:p.Leu220Val | |
| XR_244632.2:n.1593C>G | ||
| NR_156488.1:n.1585C>G | ||
| XM_011532028.2:c.1273C>G | XP_011530330.1:p.Leu425Val | |
| XM_011532030.2:c.658C>G | XP_011530332.1:p.Leu220Val | |
| NM_000297.4:c.1498C>G MANE Select | NP_000288.1:p.Leu500Val | |
| NR_156488.2:n.1597C>G |