Linked Data
ClinVar Variation Id:
8104
dbSNP Id:
rs121917843
ExAC:
5:177421232 G / A
gnomAD v2:
5-177421232-G-A
gnomAD v4:
5-177994231-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177994231G>A , CM000667.2:g.177994231G>A | GRCh38 |
| NC_000005.9:g.177421232G>A , CM000667.1:g.177421232G>A | GRCh37 |
| NC_000005.8:g.177353838G>A | NCBI36 |
| NG_015889.1:g.7012C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308304.2:c.217C>T MANE Select | ENSP00000311290.2:p.Arg73Cys | |
| NM_006261.4:c.217C>T | NP_006252.3:p.Arg73Cys | |
| NM_006261.5:c.217C>T MANE Select | NP_006252.4:p.Arg73Cys |