Linked Data
ClinVar Variation Id:
475970
dbSNP Id:
rs199553777
ExAC:
7:103202386 C / T
gnomAD v2:
7-103202386-C-T
gnomAD v3:
7-103561939-C-T
gnomAD v4:
7-103561939-C-T
COSMIC:
COSM1263985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103561939C>T , CM000669.2:g.103561939C>T | GRCh38 |
| NC_000007.13:g.103202386C>T , CM000669.1:g.103202386C>T | GRCh37 |
| NC_000007.12:g.102989622C>T | NCBI36 |
| NG_011877.1:g.432578G>A | |
| NG_011877.2:g.432578G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.5225G>A | ENSP00000388446.3:p.Arg1742Gln | |
| ENST00000428762.6:c.5225G>A MANE Select | ENSP00000392423.1:p.Arg1742Gln | |
| ENST00000679867.1:n.5109G>A | ||
| ENST00000680706.1:n.2928G>A | ||
| ENST00000681034.1:c.5225G>A | ENSP00000506075.1:p.Arg1742Gln | |
| ENST00000343529.9:c.5225G>A | ENSP00000345694.5:p.Arg1742Gln | |
| ENST00000424685.2:c.5225G>A | ENSP00000388446.2:p.Arg1742Gln | |
| ENST00000428762.5:c.5225G>A | ENSP00000392423.1:p.Arg1742Gln | |
| NM_005045.3:c.5225G>A | NP_005036.2:p.Arg1742Gln | |
| NM_173054.2:c.5225G>A | NP_774959.1:p.Arg1742Gln | |
| NM_005045.4:c.5225G>A MANE Select | NP_005036.2:p.Arg1742Gln | |
| NM_173054.3:c.5225G>A | NP_774959.1:p.Arg1742Gln |