Linked Data
ClinVar Variation Id:
1078645
ClinVar RCV Id:
RCV001393669
dbSNP Id:
rs763529790
ExAC:
7:103185752 G / A
gnomAD v2:
7-103185752-G-A
gnomAD v3:
7-103545305-G-A
gnomAD v4:
7-103545305-G-A
COSMIC:
COSM306049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103545305G>A , CM000669.2:g.103545305G>A | GRCh38 |
| NC_000007.13:g.103185752G>A , CM000669.1:g.103185752G>A | GRCh37 |
| NC_000007.12:g.102972988G>A | NCBI36 |
| NG_011877.1:g.449212C>T | |
| NG_011877.2:g.449212C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.6342C>T | ENSP00000388446.3:p.Ala2114= | |
| ENST00000428762.6:c.6342C>T MANE Select | ENSP00000392423.1:p.Ala2114= | |
| ENST00000679867.1:n.6226C>T | ||
| ENST00000679952.1:n.134C>T | ||
| ENST00000681034.1:c.6342C>T | ENSP00000506075.1:p.Ala2114= | |
| ENST00000681199.1:n.2110C>T | ||
| ENST00000343529.9:c.6342C>T | ENSP00000345694.5:p.Ala2114= | |
| ENST00000424685.2:c.6342C>T | ENSP00000388446.2:p.Ala2114= | |
| ENST00000428762.5:c.6342C>T | ENSP00000392423.1:p.Ala2114= | |
| NM_005045.3:c.6342C>T | NP_005036.2:p.Ala2114= | |
| NM_173054.2:c.6342C>T | NP_774959.1:p.Ala2114= | |
| NM_005045.4:c.6342C>T MANE Select | NP_005036.2:p.Ala2114= | |
| NM_173054.3:c.6342C>T | NP_774959.1:p.Ala2114= |