Linked Data
ClinVar Variation Id:
2148161
ClinVar RCV Id:
RCV003063256
dbSNP Id:
rs372777572
ExAC:
5:177419720 G / C
gnomAD v2:
5-177419720-G-C
gnomAD v3:
5-177992719-G-C
gnomAD v4:
5-177992719-G-C
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992719G>C , CM000667.2:g.177992719G>C | GRCh38 |
| NC_000005.9:g.177419720G>C , CM000667.1:g.177419720G>C | GRCh37 |
| NC_000005.8:g.177352326G>C | NCBI36 |
| NG_015889.1:g.8524C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.671C>G MANE Select | ENSP00000311290.2:p.Ser224Cys | |
| NM_006261.4:c.671C>G | NP_006252.3:p.Ser224Cys | |
| NM_006261.5:c.671C>G MANE Select | NP_006252.4:p.Ser224Cys |