Linked Data
ClinVar Variation Id:
576189
ClinVar RCV Id:
RCV000698623
dbSNP Id:
rs567514134
gnomAD v2:
7-128481268-G-C
gnomAD v4:
7-128841214-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128841214G>C , CM000669.2:g.128841214G>C | GRCh38 |
| NC_000007.13:g.128481268G>C , CM000669.1:g.128481268G>C | GRCh37 |
| NC_000007.12:g.128268504G>C | NCBI36 |
| NG_011807.1:g.15786G>C , LRG_870:g.15786G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.1858G>C MANE Select | ENSP00000327145.8:p.Asp620His | |
| ENST00000325888.12:c.1858G>C | ENSP00000327145.8:p.Asp620His | |
| ENST00000346177.6:c.1858G>C | ENSP00000344002.6:p.Asp620His | |
| NM_001127487.1:c.1858G>C | NP_001120959.1:p.Asp620His | |
| NM_001458.4:c.1858G>C , LRG_870t1:c.1858G>C | NP_001449.3:p.Asp620His | |
| NM_001127487.2:c.1858G>C | NP_001120959.1:p.Asp620His | |
| NM_001458.5:c.1858G>C MANE Select | NP_001449.3:p.Asp620His |