Linked Data
ClinVar Variation Id:
1126760
ClinVar RCV Id:
RCV001458917
dbSNP Id:
rs150065017
gnomAD v3:
11-62613614-G-C
gnomAD v4:
11-62613614-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62613614G>C , CM000673.2:g.62613614G>C | GRCh38 |
| NC_000011.9:g.62381086G>C , CM000673.1:g.62381086G>C | GRCh37 |
| NC_000011.8:g.62137662G>C | NCBI36 |
| NG_009845.1:g.5874G>C | |
| NG_031863.1:g.13562C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278833.4:c.333G>C MANE Select | ENSP00000278833.3:p.Gly111= | |
| ENST00000278833.3:c.333G>C | ENSP00000278833.3:p.Gly111= | |
| ENST00000525801.1:c.-38-644G>C | ENSP00000433566.1:n.-38-644G>C | |
| ENST00000525947.1:c.-200G>C | ENSP00000432983.1:n.-200G>C | |
| ENST00000534093.5:c.-38-644G>C | ENSP00000432151.1:n.-38-644G>C | |
| NM_000327.3:c.333G>C | NP_000318.1:p.Gly111= | |
| NM_000327.4:c.333G>C MANE Select | NP_000318.2:p.Gly111= |