Linked Data
ClinVar Variation Id:
209969
ClinVar RCV Id:
RCV000234793
dbSNP Id:
rs879253729
PubMed:
PMID:26818737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27926237C>G , CM000677.2:g.27926237C>G | GRCh38 |
| NC_000015.9:g.28171383C>G , CM000677.1:g.28171383C>G | GRCh37 |
| NC_000015.8:g.25844978C>G | NCBI36 |
| NG_009846.1:g.178076G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.1969G>C MANE Select | ENSP00000346659.3:p.Gly657Arg | |
| ENST00000353809.9:c.1897G>C | ENSP00000261276.8:p.Gly633Arg | |
| ENST00000354638.7:c.1969G>C | ENSP00000346659.3:p.Gly657Arg | |
| NM_000275.2:c.1969G>C | NP_000266.2:p.Gly657Arg | |
| NM_001300984.1:c.1897G>C | NP_001287913.1:p.Gly633Arg | |
| XM_011521639.1:c.1993G>C | XP_011519941.1:p.Gly665Arg | |
| XM_011521640.1:c.1969G>C | XP_011519942.1:p.Gly657Arg | |
| XM_011521641.1:c.1993G>C | XP_011519943.1:p.Gly665Arg | |
| XM_011521642.1:c.1921G>C | XP_011519944.1:p.Gly641Arg | |
| XM_011521643.1:c.1921G>C | XP_011519945.1:p.Gly641Arg | |
| XM_011521644.1:c.1855G>C | XP_011519946.1:p.Gly619Arg | |
| XM_011521645.1:c.1993G>C | XP_011519947.1:p.Gly665Arg | |
| XM_011521640.2:c.1969G>C | XP_011519942.1:p.Gly657Arg | |
| XM_017022255.1:c.1993G>C | XP_016877744.1:p.Gly665Arg | |
| XM_017022256.1:c.1993G>C | XP_016877745.1:p.Gly665Arg | |
| XM_017022257.1:c.1921G>C | XP_016877746.1:p.Gly641Arg | |
| XM_017022258.1:c.1993G>C | XP_016877747.1:p.Gly665Arg | |
| XM_017022259.1:c.1921G>C | XP_016877748.1:p.Gly641Arg | |
| XM_017022260.1:c.1855G>C | XP_016877749.1:p.Gly619Arg | |
| XM_017022261.1:c.1798G>C | XP_016877750.1:p.Gly600Arg | |
| XM_017022262.1:c.1993G>C | XP_016877751.1:p.Gly665Arg | |
| XM_017022263.1:c.1993G>C | XP_016877752.1:p.Gly665Arg | |
| XM_017022264.1:c.1993G>C | XP_016877753.1:p.Gly665Arg | |
| NM_000275.3:c.1969G>C MANE Select | NP_000266.2:p.Gly657Arg | |
| NM_001300984.2:c.1897G>C | NP_001287913.1:p.Gly633Arg |