Linked Data
dbSNP Id:
rs752850583
ExAC:
19:6681967 G / C
gnomAD v2:
19-6681967-G-C
gnomAD v3:
19-6681956-G-C
gnomAD v4:
19-6681956-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6681956G>C , CM000681.2:g.6681956G>C | GRCh38 |
| NC_000019.9:g.6681967G>C , CM000681.1:g.6681967G>C | GRCh37 |
| NC_000019.8:g.6632967G>C | NCBI36 |
| NG_009557.1:g.43696C>G , LRG_27:g.43696C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2683C>G | ||
| ENST00000695653.1:c.2244C>G | ENSP00000512084.1:p.Ile748Met | |
| ENST00000695654.1:c.3360C>G | ENSP00000512085.1:p.Ile1120Met | |
| ENST00000695689.1:c.306C>G | ENSP00000512101.1:n.306C>G | |
| ENST00000695690.1:n.526C>G | ||
| ENST00000695691.1:n.526C>G | ||
| ENST00000245907.11:c.4335C>G MANE Select | ENSP00000245907.4:p.Ile1445Met | |
| ENST00000245907.10:c.4335C>G | ENSP00000245907.4:p.Ile1445Met | |
| ENST00000596548.1:c.456C>G | ENSP00000469744.1:p.Ile152Met | |
| ENST00000599899.5:n.1294C>G | ||
| ENST00000601008.1:c.242-3998C>G | ENSP00000471384.1:n.242-3998C>G | |
| NM_000064.3:c.4335C>G | NP_000055.2:p.Ile1445Met | |
| NM_000064.4:c.4335C>G MANE Select | NP_000055.2:p.Ile1445Met |