Linked Data
ClinVar Variation Id:
2384088
ClinVar RCV Id:
RCV002680026
dbSNP Id:
rs372103701
ExAC:
14:91739024 G / C
gnomAD v2:
14-91739024-G-C
gnomAD v3:
14-91272680-G-C
gnomAD v4:
14-91272680-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272680G>C , CM000676.2:g.91272680G>C | GRCh38 |
| NC_000014.8:g.91739024G>C , CM000676.1:g.91739024G>C | GRCh37 |
| NC_000014.7:g.90808777G>C | NCBI36 |
| NG_033118.1:g.150165C>G | |
| NG_033118.2:g.150165C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6032C>G MANE Select | ENSP00000374507.6:p.Ser2011Cys | |
| ENST00000331194.8:c.1466C>G | ENSP00000330332.8:p.Ser489Cys | |
| ENST00000389857.10:c.6032C>G | ENSP00000374507.6:p.Ser2011Cys | |
| ENST00000556726.5:c.2260C>G | ||
| NM_001080414.3:c.6032C>G | NP_001073883.2:p.Ser2011Cys | |
| XM_011536796.1:c.5924C>G | XP_011535098.1:p.Ser1975Cys | |
| XM_011536796.2:c.5924C>G | XP_011535098.1:p.Ser1975Cys | |
| XM_017021336.1:c.3113C>G | XP_016876825.1:p.Ser1038Cys | |
| NM_001080414.4:c.6032C>G MANE Select | NP_001073883.2:p.Ser2011Cys |