Linked Data
ClinVar Variation Id:
2041174
ClinVar RCV Id:
RCV002912908
dbSNP Id:
rs766469530
ExAC:
16:75574050 T / C
gnomAD v2:
16-75574050-T-C
gnomAD v3:
16-75540152-T-C
gnomAD v4:
16-75540152-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75540152T>C , CM000678.2:g.75540152T>C | GRCh38 |
| NC_000016.9:g.75574050T>C , CM000678.1:g.75574050T>C | GRCh37 |
| NC_000016.8:g.74131551T>C | NCBI36 |
| NG_029853.1:g.19A>G | |
| NG_033109.1:g.21135A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*514-87A>G | ENSP00000510128.1:n.*514-87A>G | |
| ENST00000686680.1:c.478A>G | ENSP00000508892.1:p.Met160Val | |
| ENST00000688195.1:c.421A>G | ENSP00000510115.1:p.Met141Val | |
| ENST00000688270.1:c.*114A>G | ENSP00000509823.1:n.*114A>G | |
| ENST00000688618.1:c.*620A>G | ENSP00000509271.1:n.*620A>G | |
| ENST00000689040.1:c.*900A>G | ENSP00000508573.1:n.*900A>G | |
| ENST00000692097.1:c.*544A>G | ENSP00000509668.1:n.*544A>G | |
| ENST00000692689.1:c.445A>G | ENSP00000509732.1:p.Met149Val | |
| ENST00000693457.1:c.*1018A>G | ENSP00000508414.1:n.*1018A>G | |
| ENST00000693682.1:c.*437A>G | ENSP00000508670.1:n.*437A>G | |
| ENST00000258173.11:c.793A>G MANE Select | ENSP00000258173.5:p.Met265Val | |
| ENST00000258173.10:c.793A>G | ENSP00000258173.5:p.Met265Val | |
| ENST00000460606.1:c.159+2450A>G | ||
| ENST00000562410.5:c.*595A>G | ENSP00000454582.1:n.*595A>G | |
| ENST00000564318.1:n.718A>G | ||
| ENST00000565067.5:c.649A>G | ENSP00000457254.1:p.Met217Val | |
| ENST00000568377.5:c.880A>G | ENSP00000476267.1:p.Met294Val | |
| ENST00000569294.1:n.537A>G | ||
| ENST00000570006.5:c.*173A>G | ENSP00000455520.1:n.*173A>G | |
| NM_001077416.2:c.952A>G | NP_001070884.2:p.Met318Val | |
| NM_001077418.2:c.793A>G | NP_001070886.1:p.Met265Val | |
| NR_074083.1:n.993A>G | ||
| NM_001077418.3:c.793A>G MANE Select | NP_001070886.1:p.Met265Val | |
| NR_074083.2:n.959A>G |