Linked Data
ClinVar Variation Id:
60509
ClinVar RCV Id:
RCV000054407
RCV000207348
RCV000298790
RCV001192384
RCV001813374
RCV002433549
RCV003915017
RCV003450918
dbSNP Id:
rs672601335
gnomAD v4:
1-155904456-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155904456C>G , CM000663.2:g.155904456C>G | GRCh38 |
| NC_000001.10:g.155874247C>G , CM000663.1:g.155874247C>G | GRCh37 |
| NC_000001.9:g.154140871C>G | NCBI36 |
| NG_033885.1:g.11947G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461050.6:c.*13G>C | ENSP00000476319.1:n.*13G>C | |
| ENST00000539040.6:c.176G>C | ENSP00000441950.1:p.Gly59Ala | |
| ENST00000704061.1:c.261G>C | ENSP00000515664.1:p.Arg87Ser | |
| ENST00000368323.8:c.284G>C MANE Select | ENSP00000357306.3:p.Gly95Ala | |
| ENST00000651833.1:c.284G>C | ENSP00000498732.1:p.Gly95Ala | |
| ENST00000651853.1:c.287G>C | ENSP00000498685.1:p.Gly96Ala | |
| ENST00000368322.7:c.335G>C | ENSP00000357305.3:p.Gly112Ala | |
| ENST00000368323.7:c.284G>C | ENSP00000357306.3:p.Gly95Ala | |
| ENST00000461050.5:c.*13G>C | ENSP00000476319.1:n.*13G>C | |
| ENST00000539040.5:c.176G>C | ENSP00000441950.1:p.Gly59Ala | |
| ENST00000609492.1:c.284G>C | ENSP00000476612.1:p.Gly95Ala | |
| NM_001256820.1:c.176G>C | NP_001243749.1:p.Gly59Ala | |
| NM_001256821.1:c.335G>C | NP_001243750.1:p.Gly112Ala | |
| NM_006912.5:c.284G>C | NP_008843.1:p.Gly95Ala | |
| NM_001256820.2:c.176G>C | NP_001243749.1:p.Gly59Ala | |
| NM_001256821.2:c.335G>C | NP_001243750.1:p.Gly112Ala | |
| NM_006912.6:c.284G>C MANE Select | NP_008843.1:p.Gly95Ala |