Linked Data
ClinVar Variation Id:
143154
ClinVar RCV Id:
RCV000132679
RCV000174144
RCV000435881
RCV000501136
RCV000678546
RCV000597492
RCV001164460
dbSNP Id:
rs147876778
ExAC:
8:87645092 C / T
gnomAD v2:
8-87645092-C-T
gnomAD v3:
8-86632864-C-T
gnomAD v4:
8-86632864-C-T
COSMIC:
COSM3651528
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632864C>T , CM000670.2:g.86632864C>T | GRCh38 |
| NC_000008.10:g.87645092C>T , CM000670.1:g.87645092C>T | GRCh37 |
| NC_000008.9:g.87714208C>T | NCBI36 |
| NG_016980.1:g.115812G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1208G>A MANE Select | ENSP00000316605.5:p.Arg403Gln | |
| ENST00000681546.1:n.1028G>A | ||
| ENST00000681746.1:c.1208G>A | ENSP00000505959.1:p.Arg403Gln | |
| ENST00000320005.5:c.1208G>A | ENSP00000316605.5:p.Arg403Gln | |
| NM_019098.4:c.1208G>A | NP_061971.3:p.Arg403Gln | |
| XM_011517138.1:c.794G>A | XP_011515440.1:p.Arg265Gln | |
| XM_011517138.2:c.794G>A | XP_011515440.1:p.Arg265Gln | |
| NM_019098.5:c.1208G>A MANE Select | NP_061971.3:p.Arg403Gln |