Linked Data
ClinVar Variation Id:
542574
dbSNP Id:
rs56146903
ExAC:
7:103301928 C / G
gnomAD v2:
7-103301928-C-G
gnomAD v3:
7-103661481-C-G
gnomAD v4:
7-103661481-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103661481C>G , CM000669.2:g.103661481C>G | GRCh38 |
| NC_000007.13:g.103301928C>G , CM000669.1:g.103301928C>G | GRCh37 |
| NC_000007.12:g.103089164C>G | NCBI36 |
| NG_011877.1:g.333036G>C | |
| NG_011877.2:g.333036G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.1336G>C | ENSP00000388446.3:p.Glu446Gln | |
| ENST00000428762.6:c.1336G>C MANE Select | ENSP00000392423.1:p.Glu446Gln | |
| ENST00000473457.2:n.1600G>C | ||
| ENST00000679867.1:n.1220G>C | ||
| ENST00000680712.1:n.1053G>C | ||
| ENST00000681034.1:c.1336G>C | ENSP00000506075.1:p.Glu446Gln | |
| ENST00000681931.1:n.1220G>C | ||
| ENST00000343529.9:c.1336G>C | ENSP00000345694.5:p.Glu446Gln | |
| ENST00000424685.2:c.1336G>C | ENSP00000388446.2:p.Glu446Gln | |
| ENST00000428762.5:c.1336G>C | ENSP00000392423.1:p.Glu446Gln | |
| NM_005045.3:c.1336G>C | NP_005036.2:p.Glu446Gln | |
| NM_173054.2:c.1336G>C | NP_774959.1:p.Glu446Gln | |
| NM_005045.4:c.1336G>C MANE Select | NP_005036.2:p.Glu446Gln | |
| NM_173054.3:c.1336G>C | NP_774959.1:p.Glu446Gln |