Linked Data
ClinVar Variation Id:
99108
dbSNP Id:
rs61749420
ExAC:
1:94526296 G / A
gnomAD v2:
1-94526296-G-A
gnomAD v3:
1-94060740-G-A
gnomAD v4:
1-94060740-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94060740G>A , CM000663.2:g.94060740G>A | GRCh38 |
| NC_000001.10:g.94526296G>A , CM000663.1:g.94526296G>A | GRCh37 |
| NC_000001.9:g.94298884G>A | NCBI36 |
| NG_009073.1:g.65410C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.1957C>T MANE Select | ENSP00000359245.3:p.Arg653Cys | |
| ENST00000649773.1:c.1957C>T | ENSP00000496882.1:p.Arg653Cys | |
| ENST00000370225.3:c.1957C>T | ENSP00000359245.3:p.Arg653Cys | |
| ENST00000472033.1:n.77C>T | ||
| ENST00000536513.5:c.-65+2434C>T | ENSP00000439707.2:n.-65+2434C>T | |
| NM_000350.2:c.1957C>T | NP_000341.2:p.Arg653Cys | |
| NM_000350.3:c.1957C>T MANE Select | NP_000341.2:p.Arg653Cys |