Linked Data
ClinVar Variation Id:
964317
ClinVar RCV Id:
RCV001238511
dbSNP Id:
rs779448658
gnomAD v2:
1-160100239-G-C
gnomAD v3:
1-160130449-G-C
gnomAD v4:
1-160130449-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160130449G>C , CM000663.2:g.160130449G>C | GRCh38 |
| NC_000001.10:g.160100239G>C , CM000663.1:g.160100239G>C | GRCh37 |
| NC_000001.9:g.158366863G>C | NCBI36 |
| NG_008014.1:g.19692G>C , LRG_6:g.19692G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.1679G>C MANE Select | ENSP00000354490.3:p.Gly560Ala | |
| ENST00000361216.7:c.1679G>C | ENSP00000354490.3:p.Gly560Ala | |
| ENST00000392233.7:c.1679G>C | ENSP00000376066.3:p.Gly560Ala | |
| ENST00000447527.1:c.811G>C | ||
| ENST00000472488.5:n.1782G>C | ||
| NM_000702.3:c.1679G>C | NP_000693.1:p.Gly560Ala | |
| NM_000702.4:c.1679G>C MANE Select | NP_000693.1:p.Gly560Ala |