Linked Data
ClinVar Variation Id:
246572
ClinVar RCV Id:
RCV000236004
RCV000279139
RCV000296319
RCV000373587
RCV000555621
RCV000790309
RCV001093884
RCV001093885
RCV001658084
RCV002365233
dbSNP Id:
rs202176679
ExAC:
1:161275906 C / G
gnomAD v2:
1-161275906-C-G
gnomAD v3:
1-161306116-C-G
gnomAD v4:
1-161306116-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306116C>G , CM000663.2:g.161306116C>G | GRCh38 |
| NC_000001.10:g.161275906C>G , CM000663.1:g.161275906C>G | GRCh37 |
| NC_000001.9:g.159542530C>G | NCBI36 |
| NG_008055.1:g.8857G>C , LRG_256:g.8857G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.556G>C | ENSP00000488104.2:p.Gly186Arg | |
| ENST00000533357.5:c.637G>C MANE Select | ENSP00000432943.1:p.Gly213Arg | |
| ENST00000672287.2:c.49G>C | ENSP00000499818.2:p.Gly17Arg | |
| ENST00000672602.2:c.637G>C | ENSP00000500814.2:p.Gly213Arg | |
| ENST00000674861.1:n.700G>C | ||
| ENST00000463290.5:c.637G>C | ENSP00000431538.1:p.Gly213Arg | |
| ENST00000476410.1:n.97G>C | ||
| ENST00000488271.1:n.75G>C | ||
| ENST00000491222.5:c.49G>C | ENSP00000431441.1:p.Gly17Arg | |
| ENST00000526189.2:c.300G>C | ||
| ENST00000533357.4:c.637G>C | ENSP00000432943.1:p.Gly213Arg | |
| NM_000530.6:c.637G>C , LRG_256t1:c.637G>C | NP_000521.2:p.Gly213Arg | |
| NM_000530.7:c.637G>C | NP_000521.2:p.Gly213Arg | |
| NM_001315491.1:c.637G>C | NP_001302420.1:p.Gly213Arg | |
| XM_017001321.2:c.667G>C | XP_016856810.1:p.Gly223Arg | |
| NM_000530.8:c.637G>C MANE Select | NP_000521.2:p.Gly213Arg | |
| NM_001315491.2:c.637G>C | NP_001302420.1:p.Gly213Arg |