Linked Data
ClinVar Variation Id:
5015
ClinVar RCV Id:
RCV000005318
dbSNP Id:
rs104894193
ExAC:
11:44297022 C / T
gnomAD v2:
11-44297022-C-T
gnomAD v4:
11-44275472-C-T
COSMIC:
COSM188962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44275472C>T , CM000673.2:g.44275472C>T | GRCh38 |
| NC_000011.9:g.44297022C>T , CM000673.1:g.44297022C>T | GRCh37 |
| NC_000011.8:g.44253598C>T | NCBI36 |
| NG_015809.1:g.39695G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652299.1:c.653G>A MANE Select | ENSP00000498217.1:p.Arg218Gln | |
| ENST00000329255.3:c.653G>A | ENSP00000332744.3:p.Arg218Gln | |
| NM_021926.3:c.653G>A | NP_068745.2:p.Arg218Gln | |
| XM_011520264.1:c.653G>A | XP_011518566.1:p.Arg218Gln | |
| XM_011520265.1:c.131G>A | XP_011518567.1:p.Arg44Gln | |
| XM_011520266.1:c.131G>A | XP_011518568.1:p.Arg44Gln | |
| NM_021926.4:c.653G>A MANE Select | NP_068745.2:p.Arg218Gln |