Linked Data
ClinVar Variation Id:
2216094
ClinVar RCV Id:
RCV002665604
dbSNP Id:
rs773316367
ExAC:
11:47463446 C / T
gnomAD v2:
11-47463446-C-T
gnomAD v3:
11-47441894-C-T
gnomAD v4:
11-47441894-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441894C>T , CM000673.2:g.47441894C>T | GRCh38 |
| NC_000011.9:g.47463446C>T , CM000673.1:g.47463446C>T | GRCh37 |
| NC_000011.8:g.47420022C>T | NCBI36 |
| NG_008312.1:g.12285G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.718G>A MANE Select | ENSP00000298854.2:p.Gly240Arg | |
| ENST00000298854.6:c.718G>A | ENSP00000298854.2:p.Gly240Arg | |
| ENST00000352508.7:c.718G>A | ENSP00000298853.3:p.Gly240Arg | |
| ENST00000524487.5:c.559G>A | ENSP00000435551.2:p.Gly187Arg | |
| ENST00000529341.1:c.718G>A | ENSP00000431732.1:p.Gly240Arg | |
| NM_005055.4:c.718G>A | NP_005046.2:p.Gly240Arg | |
| NM_032645.4:c.718G>A | NP_116034.2:p.Gly240Arg | |
| XM_005253042.2:c.718G>A | XP_005253099.1:p.Gly240Arg | |
| XM_005253043.2:c.718G>A | XP_005253100.1:p.Gly240Arg | |
| XM_011520252.1:c.718G>A | XP_011518554.1:p.Gly240Arg | |
| XM_011520253.1:c.718G>A | XP_011518555.1:p.Gly240Arg | |
| XM_005253042.3:c.718G>A | XP_005253099.1:p.Gly240Arg | |
| XM_005253043.3:c.718G>A | XP_005253100.1:p.Gly240Arg | |
| NM_005055.5:c.718G>A MANE Select | NP_005046.2:p.Gly240Arg | |
| NM_032645.5:c.718G>A | NP_116034.2:p.Gly240Arg |