Linked Data
ClinVar Variation Id:
197248
dbSNP Id:
rs559933584
gnomAD v2:
11-47463427-G-A
gnomAD v3:
11-47441875-G-A
gnomAD v4:
11-47441875-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441875G>A , CM000673.2:g.47441875G>A | GRCh38 |
| NC_000011.9:g.47463427G>A , CM000673.1:g.47463427G>A | GRCh37 |
| NC_000011.8:g.47420003G>A | NCBI36 |
| NG_008312.1:g.12304C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.737C>T MANE Select | ENSP00000298854.2:p.Ala246Val | |
| ENST00000298854.6:c.737C>T | ENSP00000298854.2:p.Ala246Val | |
| ENST00000352508.7:c.737C>T | ENSP00000298853.3:p.Ala246Val | |
| ENST00000524487.5:c.578C>T | ENSP00000435551.2:p.Ala193Val | |
| ENST00000529341.1:c.737C>T | ENSP00000431732.1:p.Ala246Val | |
| NM_005055.4:c.737C>T | NP_005046.2:p.Ala246Val | |
| NM_032645.4:c.737C>T | NP_116034.2:p.Ala246Val | |
| XM_005253042.2:c.737C>T | XP_005253099.1:p.Ala246Val | |
| XM_005253043.2:c.737C>T | XP_005253100.1:p.Ala246Val | |
| XM_011520252.1:c.737C>T | XP_011518554.1:p.Ala246Val | |
| XM_011520253.1:c.737C>T | XP_011518555.1:p.Ala246Val | |
| XM_005253042.3:c.737C>T | XP_005253099.1:p.Ala246Val | |
| XM_005253043.3:c.737C>T | XP_005253100.1:p.Ala246Val | |
| NM_005055.5:c.737C>T MANE Select | NP_005046.2:p.Ala246Val | |
| NM_032645.5:c.737C>T | NP_116034.2:p.Ala246Val |