Linked Data
ClinVar Variation Id:
471975
ClinVar RCV Id:
RCV000525798
dbSNP Id:
rs560530105
ExAC:
7:128480095 G / C
gnomAD v2:
7-128480095-G-C
gnomAD v3:
7-128840041-G-C
gnomAD v4:
7-128840041-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128840041G>C , CM000669.2:g.128840041G>C | GRCh38 |
| NC_000007.13:g.128480095G>C , CM000669.1:g.128480095G>C | GRCh37 |
| NC_000007.12:g.128267331G>C | NCBI36 |
| NG_011807.1:g.14613G>C , LRG_870:g.14613G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.1430G>C MANE Select | ENSP00000327145.8:p.Cys477Ser | |
| ENST00000325888.12:c.1430G>C | ENSP00000327145.8:p.Cys477Ser | |
| ENST00000346177.6:c.1430G>C | ENSP00000344002.6:p.Cys477Ser | |
| NM_001127487.1:c.1430G>C | NP_001120959.1:p.Cys477Ser | |
| NM_001458.4:c.1430G>C , LRG_870t1:c.1430G>C | NP_001449.3:p.Cys477Ser | |
| NM_001127487.2:c.1430G>C | NP_001120959.1:p.Cys477Ser | |
| NM_001458.5:c.1430G>C MANE Select | NP_001449.3:p.Cys477Ser |