Linked Data
dbSNP Id:
rs761956488
ExAC:
19:12767841 G / C
gnomAD v2:
19-12767841-G-C
gnomAD v4:
19-12657027-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12657027G>C , CM000681.2:g.12657027G>C | GRCh38 |
| NC_000019.9:g.12767841G>C , CM000681.1:g.12767841G>C | GRCh37 |
| NC_000019.8:g.12628841G>C | NCBI36 |
| NG_008318.1:g.14751C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1449C>G MANE Select | ENSP00000395473.2:p.Leu483= | |
| ENST00000221363.8:c.1446C>G | ENSP00000221363.4:p.Leu482= | |
| ENST00000433513.5:n.55C>G | ||
| ENST00000456935.6:c.1449C>G | ENSP00000395473.2:p.Leu483= | |
| ENST00000466794.5:n.1348C>G | ||
| ENST00000495617.1:n.625C>G | ||
| ENST00000593686.1:c.59C>G | ||
| ENST00000595880.5:n.46C>G | ||
| NM_000528.3:c.1449C>G | NP_000519.2:p.Leu483= | |
| NM_001173498.1:c.1446C>G | NP_001166969.1:p.Leu482= | |
| XM_005259913.1:c.1452C>G | XP_005259970.1:p.Leu484= | |
| XM_011528017.1:c.348C>G | XP_011526319.1:p.Leu116= | |
| XM_005259913.2:c.1452C>G | XP_005259970.1:p.Leu484= | |
| XM_024451518.1:c.348C>G | XP_024307286.1:p.Leu116= | |
| NM_000528.4:c.1449C>G MANE Select | NP_000519.2:p.Leu483= | |
| NM_001173498.2:c.1446C>G | NP_001166969.1:p.Leu482= |