Linked Data
ClinVar Variation Id:
1563822
ClinVar RCV Id:
RCV002209518
dbSNP Id:
rs2138335926
MyVariant Identifiers:
chr13:g.49033846G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459710G>C , CM000675.2:g.48459710G>C | GRCh38 |
| NC_000013.10:g.49033846G>C , CM000675.1:g.49033846G>C | GRCh37 |
| NC_000013.9:g.47931847G>C | NCBI36 |
| NG_009009.1:g.160964G>C , LRG_517:g.160964G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1983G>C MANE Select | ENSP00000267163.4:p.Arg661= | |
| ENST00000643064.1:c.194+78267G>C | ||
| ENST00000650461.1:c.1983G>C | ENSP00000497193.1:p.Arg661= | |
| ENST00000267163.4:c.1983G>C | ENSP00000267163.4:p.Arg661= | |
| NM_000321.2:c.1983G>C , LRG_517t1:c.1983G>C | NP_000312.2:p.Arg661= | |
| XM_011535171.1:c.1722G>C | XP_011533473.1:p.Arg574= | |
| XM_011535171.2:c.1722G>C | XP_011533473.1:p.Arg574= | |
| NM_000321.3:c.1983G>C MANE Select | NP_000312.2:p.Arg661= |