Linked Data
ClinVar Variation Id:
518278
dbSNP Id:
rs1789054
ExAC:
18:28649040 G / C
gnomAD v2:
18-28649040-G-C
gnomAD v3:
18-31069074-G-C
gnomAD v4:
18-31069074-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31069074G>C , CM000680.2:g.31069074G>C | GRCh38 |
| NC_000018.9:g.28649040G>C , CM000680.1:g.28649040G>C | GRCh37 |
| NC_000018.8:g.26903038G>C | NCBI36 |
| NG_008208.2:g.38352C>G , LRG_400:g.38352C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.1899C>G | ENSP00000507826.1:p.Ile633Met | |
| ENST00000251081.8:c.2328C>G | ENSP00000251081.6:p.Ile776Met | |
| ENST00000280904.11:c.2328C>G MANE Select | ENSP00000280904.6:p.Ile776Met | |
| ENST00000648081.1:c.1899C>G | ENSP00000497441.1:p.Ile633Met | |
| ENST00000251081.6:c.2328C>G | ENSP00000251081.6:p.Ile776Met | |
| ENST00000280904.10:c.2328C>G | ENSP00000280904.6:p.Ile776Met | |
| NM_004949.4:c.2328C>G | NP_004940.1:p.Ile776Met | |
| NM_024422.4:c.2328C>G | NP_077740.1:p.Ile776Met | |
| XM_005258206.3:c.1899C>G | XP_005258263.1:p.Ile633Met | |
| XM_005258206.4:c.1899C>G | XP_005258263.1:p.Ile633Met | |
| NM_004949.5:c.2328C>G | NP_004940.1:p.Ile776Met | |
| NM_024422.6:c.2328C>G MANE Select | NP_077740.1:p.Ile776Met |