Linked Data
ClinVar Variation Id:
264644
ClinVar RCV Id:
RCV000508673
dbSNP Id:
rs776556963
ExAC:
14:35240740 C / T
gnomAD v2:
14-35240740-C-T
gnomAD v3:
14-34771534-C-T
gnomAD v4:
14-34771534-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.34771534C>T , CM000676.2:g.34771534C>T | GRCh38 |
| NC_000014.8:g.35240740C>T , CM000676.1:g.35240740C>T | GRCh37 |
| NC_000014.7:g.34310491C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360310.6:c.3278G>A MANE Select | ENSP00000353458.1:p.Arg1093Gln | |
| ENST00000358716.8:c.3182G>A | ENSP00000351555.4:p.Arg1061Gln | |
| ENST00000360310.5:c.3278G>A | ENSP00000353458.1:p.Arg1093Gln | |
| ENST00000382422.6:c.3278G>A | ENSP00000371859.2:p.Arg1093Gln | |
| ENST00000554391.1:n.281G>A | ||
| ENST00000554865.1:c.126G>A | ||
| NM_013448.2:c.3278G>A | NP_038476.2:p.Arg1093Gln | |
| NM_182648.1:c.3182G>A | NP_872589.1:p.Arg1061Gln | |
| XM_011536374.1:c.2999G>A | XP_011534676.1:p.Arg1000Gln | |
| XM_011536375.1:c.3179G>A | XP_011534677.1:p.Arg1060Gln | |
| XM_011536376.1:c.2066G>A | XP_011534678.1:p.Arg689Gln | |
| XR_943381.1:n.3559G>A | ||
| XM_011536376.3:c.2066G>A | XP_011534678.3:p.Arg689Gln | |
| XM_017020942.2:c.1970G>A | XP_016876431.2:p.Arg657Gln | |
| XM_024449460.1:c.3278G>A | XP_024305228.1:p.Arg1093Gln | |
| NM_013448.3:c.3278G>A MANE Select | NP_038476.2:p.Arg1093Gln | |
| NM_182648.2:c.3182G>A | NP_872589.1:p.Arg1061Gln |