Linked Data
ClinVar Variation Id:
2054863
ClinVar RCV Id:
RCV002933036
dbSNP Id:
rs766596809
ExAC:
1:27440439 C / T
gnomAD v2:
1-27440439-C-T
gnomAD v3:
1-27113948-C-T
gnomAD v4:
1-27113948-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27113948C>T , CM000663.2:g.27113948C>T | GRCh38 |
| NC_000001.10:g.27440439C>T , CM000663.1:g.27440439C>T | GRCh37 |
| NC_000001.9:g.27313026C>T | NCBI36 |
| NG_030006.1:g.46013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263980.8:c.691G>A MANE Select | ENSP00000263980.3:p.Gly231Ser | |
| ENST00000263980.7:c.691G>A | ENSP00000263980.3:p.Gly231Ser | |
| ENST00000374086.3:c.691G>A | ENSP00000363199.3:p.Gly231Ser | |
| NM_003047.4:c.691G>A | NP_003038.2:p.Gly231Ser | |
| NR_046474.1:n.1149-4171G>A | ||
| XM_011542021.1:c.361G>A | XP_011540323.1:p.Gly121Ser | |
| XM_011542021.3:c.361G>A | XP_011540323.1:p.Gly121Ser | |
| NM_003047.5:c.691G>A MANE Select | NP_003038.2:p.Gly231Ser | |
| NR_046474.2:n.1144-4171G>A |