Linked Data
ClinVar Variation Id:
1676744
ClinVar RCV Id:
RCV002222141
dbSNP Id:
rs2142229154
gnomAD v4:
13-113117506-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113117506G>C , CM000675.2:g.113117506G>C | GRCh38 |
| NC_000013.10:g.113771820G>C , CM000675.1:g.113771820G>C | GRCh37 |
| NC_000013.9:g.112819821G>C | NCBI36 |
| NG_009262.1:g.16716G>C , LRG_554:g.16716G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.649G>C MANE Select | ENSP00000329546.4:p.Gly217Arg | |
| ENST00000346342.7:c.649G>C | ENSP00000329546.3:p.Gly217Arg | |
| ENST00000375581.3:c.715G>C | ENSP00000364731.3:p.Gly239Arg | |
| ENST00000541084.5:c.463G>C | ENSP00000442051.2:p.Gly155Arg | |
| NM_000131.4:c.715G>C , LRG_554t1:c.715G>C | NP_000122.1:p.Gly239Arg | |
| NM_001267554.1:c.463G>C | NP_001254483.1:p.Gly155Arg | |
| NM_019616.3:c.649G>C , LRG_554t2:c.649G>C | NP_062562.1:p.Gly217Arg | |
| NR_051961.1:n.736G>C | ||
| XM_006719963.2:c.508G>C | XP_006720026.1:p.Gly170Arg | |
| XM_011537474.1:c.757G>C | XP_011535776.1:p.Gly253Arg | |
| XM_011537475.1:c.571G>C | XP_011535777.1:p.Gly191Arg | |
| XM_011537476.1:c.409G>C | XP_011535778.1:p.Gly137Arg | |
| XM_011537477.1:c.718G>C | XP_011535779.1:p.Gly240Arg | |
| XM_006719963.3:c.553G>C | XP_006720026.2:p.Gly185Arg | |
| XM_011537474.2:c.802G>C | XP_011535776.2:p.Gly268Arg | |
| XM_011537475.2:c.616G>C | XP_011535777.2:p.Gly206Arg | |
| XM_011537476.2:c.409G>C | XP_011535778.1:p.Gly137Arg | |
| NM_019616.4:c.649G>C MANE Select | NP_062562.1:p.Gly217Arg | |
| NR_051961.2:n.733G>C | ||
| NM_001267554.2:c.463G>C | NP_001254483.1:p.Gly155Arg |