Linked Data
ClinVar Variation Id:
879945
ClinVar RCV Id:
RCV001107867
dbSNP Id:
rs770168630
ExAC:
10:105794081 G / A
gnomAD v2:
10-105794081-G-A
gnomAD v3:
10-104034323-G-A
gnomAD v4:
10-104034323-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034323G>A , CM000672.2:g.104034323G>A | GRCh38 |
| NC_000010.10:g.105794081G>A , CM000672.1:g.105794081G>A | GRCh37 |
| NC_000010.9:g.105784071G>A | NCBI36 |
| NG_007069.1:g.56558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3532C>T | ENSP00000358748.3:p.Arg1178Cys | |
| ENST00000648076.2:c.3778C>T MANE Select | ENSP00000497653.1:p.Arg1260Cys | |
| ENST00000353479.9:c.3778C>T | ENSP00000340937.5:p.Arg1260Cys | |
| ENST00000369733.7:c.3532C>T | ENSP00000358748.3:p.Arg1178Cys | |
| NM_000494.3:c.3778C>T | NP_000485.3:p.Arg1260Cys | |
| NM_000494.4:c.3778C>T MANE Select | NP_000485.3:p.Arg1260Cys |