Linked Data
dbSNP Id:
rs765147079
ExAC:
19:6679198 G / A
gnomAD v2:
19-6679198-G-A
gnomAD v3:
19-6679187-G-A
gnomAD v4:
19-6679187-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6679187G>A , CM000681.2:g.6679187G>A | GRCh38 |
| NC_000019.9:g.6679198G>A , CM000681.1:g.6679198G>A | GRCh37 |
| NC_000019.8:g.6630198G>A | NCBI36 |
| NG_009557.1:g.46465C>T , LRG_27:g.46465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2916C>T | ||
| ENST00000695653.1:c.2477C>T | ENSP00000512084.1:p.Ser826Leu | |
| ENST00000695654.1:c.3593C>T | ENSP00000512085.1:p.Ser1198Leu | |
| ENST00000695689.1:c.539C>T | ENSP00000512101.1:n.539C>T | |
| ENST00000695690.1:n.1633C>T | ||
| ENST00000695691.1:n.1429C>T | ||
| ENST00000245907.11:c.4568C>T MANE Select | ENSP00000245907.4:p.Ser1523Leu | |
| ENST00000245907.10:c.4568C>T | ENSP00000245907.4:p.Ser1523Leu | |
| ENST00000599668.1:n.188C>T | ||
| ENST00000599899.5:n.1527C>T | ||
| ENST00000601008.1:c.242-1229C>T | ENSP00000471384.1:n.242-1229C>T | |
| ENST00000602229.1:c.15C>T | ||
| NM_000064.3:c.4568C>T | NP_000055.2:p.Ser1523Leu | |
| NM_000064.4:c.4568C>T MANE Select | NP_000055.2:p.Ser1523Leu |