Linked Data
ClinVar Variation Id:
2351637
ClinVar RCV Id:
RCV002973385
dbSNP Id:
rs200106723
ExAC:
12:6145564 A / C
gnomAD v2:
12-6145564-A-C
gnomAD v3:
12-6036398-A-C
gnomAD v4:
12-6036398-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6036398A>C , CM000674.2:g.6036398A>C | GRCh38 |
| NC_000012.11:g.6145564A>C , CM000674.1:g.6145564A>C | GRCh37 |
| NC_000012.10:g.6015825A>C | NCBI36 |
| NG_009072.1:g.93273T>G | |
| NG_009072.2:g.93273T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261405.10:c.2536T>G MANE Select | ENSP00000261405.5:p.Cys846Gly | |
| ENST00000261405.9:c.2536T>G | ENSP00000261405.5:p.Cys846Gly | |
| ENST00000538635.5:n.421-42464T>G | ||
| NM_000552.3:c.2536T>G | NP_000543.2:p.Cys846Gly | |
| NM_000552.4:c.2536T>G | NP_000543.2:p.Cys846Gly | |
| NM_000552.5:c.2536T>G MANE Select | NP_000543.3:p.Cys846Gly |