Linked Data
dbSNP Id:
rs149627133
ExAC:
19:6682015 G / C
gnomAD v2:
19-6682015-G-C
gnomAD v3:
19-6682004-G-C
gnomAD v4:
19-6682004-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6682004G>C , CM000681.2:g.6682004G>C | GRCh38 |
| NC_000019.9:g.6682015G>C , CM000681.1:g.6682015G>C | GRCh37 |
| NC_000019.8:g.6633015G>C | NCBI36 |
| NG_009557.1:g.43648C>G , LRG_27:g.43648C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2635C>G | ||
| ENST00000695653.1:c.2196C>G | ENSP00000512084.1:p.Ile732Met | |
| ENST00000695654.1:c.3312C>G | ENSP00000512085.1:p.Ile1104Met | |
| ENST00000695689.1:c.258C>G | ENSP00000512101.1:n.258C>G | |
| ENST00000695690.1:n.478C>G | ||
| ENST00000695691.1:n.478C>G | ||
| ENST00000245907.11:c.4287C>G MANE Select | ENSP00000245907.4:p.Ile1429Met | |
| ENST00000245907.10:c.4287C>G | ENSP00000245907.4:p.Ile1429Met | |
| ENST00000596548.1:c.408C>G | ENSP00000469744.1:p.Ile136Met | |
| ENST00000599899.5:n.1246C>G | ||
| ENST00000601008.1:c.242-4046C>G | ENSP00000471384.1:n.242-4046C>G | |
| NM_000064.3:c.4287C>G | NP_000055.2:p.Ile1429Met | |
| NM_000064.4:c.4287C>G MANE Select | NP_000055.2:p.Ile1429Met |