Linked Data
ClinVar Variation Id:
188890
ClinVar RCV Id:
RCV000169247
dbSNP Id:
rs786204540
gnomAD v4:
11-2165284-G-A
COSMIC:
COSM5496198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2165284G>A , CM000673.2:g.2165284G>A | GRCh38 |
| NC_000011.9:g.2186514G>A , CM000673.1:g.2186514G>A | GRCh37 |
| NC_000011.8:g.2143090G>A | NCBI36 |
| NG_007114.1:g.911C>T | |
| NG_008128.1:g.11522C>T | |
| NG_050578.1:g.926C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.1282C>T MANE Select | ENSP00000325951.4:p.Gln428Ter | |
| ENST00000333684.9:c.1000C>T | ENSP00000328814.6:p.Gln334Ter | |
| ENST00000352909.7:c.1282C>T | ENSP00000325951.3:p.Gln428Ter | |
| ENST00000381175.5:c.1363C>T | ENSP00000370567.1:p.Gln455Ter | |
| ENST00000381178.5:c.1375C>T | ENSP00000370571.1:p.Gln459Ter | |
| NM_000360.3:c.1282C>T | NP_000351.2:p.Gln428Ter | |
| NM_199292.2:c.1375C>T | NP_954986.2:p.Gln459Ter | |
| NM_199293.2:c.1363C>T | NP_954987.2:p.Gln455Ter | |
| XM_011520335.1:c.1294C>T | XP_011518637.1:p.Gln432Ter | |
| XM_011520335.2:c.1294C>T | XP_011518637.1:p.Gln432Ter | |
| NM_000360.4:c.1282C>T MANE Select | NP_000351.2:p.Gln428Ter | |
| NM_199292.3:c.1375C>T | NP_954986.2:p.Gln459Ter | |
| NM_199293.3:c.1363C>T | NP_954987.2:p.Gln455Ter |