Linked Data
ClinVar Variation Id:
437865
ClinVar RCV Id:
RCV000504572
dbSNP Id:
rs200140363
ExAC:
2:20153613 C / T
gnomAD v2:
2-20153613-C-T
gnomAD v3:
2-19953852-C-T
gnomAD v4:
2-19953852-C-T
COSMIC:
COSM77007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19953852C>T , CM000664.2:g.19953852C>T | GRCh38 |
| NC_000002.11:g.20153613C>T , CM000664.1:g.20153613C>T | GRCh37 |
| NC_000002.10:g.20017094C>T | NCBI36 |
| NG_021212.1:g.41272G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.1382G>A MANE Select | ENSP00000281405.5:p.Arg461Gln | |
| ENST00000345530.8:c.1415G>A MANE Plus Clinical | ENSP00000314444.5:p.Arg472Gln | |
| ENST00000281405.8:c.1382G>A | ENSP00000281405.4:p.Arg461Gln | |
| ENST00000345530.7:c.1415G>A | ENSP00000314444.5:p.Arg472Gln | |
| ENST00000414212.5:c.1415G>A | ENSP00000390802.1:p.Arg472Gln | |
| ENST00000445063.5:c.858G>A | ||
| ENST00000453014.1:c.20G>A | ENSP00000404409.1:p.Arg7Gln | |
| NM_001006657.1:c.1415G>A | NP_001006658.1:p.Arg472Gln | |
| NM_020779.3:c.1382G>A | NP_065830.2:p.Arg461Gln | |
| XM_011533007.1:c.110G>A | XP_011531309.1:p.Arg37Gln | |
| XR_426989.2:n.1415G>A | ||
| XR_939699.1:n.1415G>A | ||
| XM_011533007.2:c.110G>A | XP_011531309.1:p.Arg37Gln | |
| XR_001738862.1:n.1415G>A | ||
| XR_426989.3:n.1415G>A | ||
| XR_939699.3:n.1415G>A | ||
| NM_001006657.2:c.1415G>A MANE Plus Clinical | NP_001006658.1:p.Arg472Gln | |
| NM_020779.4:c.1382G>A MANE Select | NP_065830.2:p.Arg461Gln |