Linked Data
ClinVar Variation Id:
296280
ClinVar RCV Id:
RCV000309150
RCV000676044
RCV001037362
RCV001272167
RCV002480074
RCV002520466
RCV003957547
dbSNP Id:
rs76530653
ExAC:
1:2340073 C / G
gnomAD v2:
1-2340073-C-G
gnomAD v3:
1-2408634-C-G
gnomAD v4:
1-2408634-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2408634C>G , CM000663.2:g.2408634C>G | GRCh38 |
| NC_000001.10:g.2340073C>G , CM000663.1:g.2340073C>G | GRCh37 |
| NC_000001.9:g.2329933C>G | NCBI36 |
| NG_008342.1:g.8938G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.418G>C | ENSP00000288774.3:p.Gly140Arg | |
| ENST00000447513.7:c.418G>C MANE Select | ENSP00000407922.2:p.Gly140Arg | |
| ENST00000650293.1:c.372G>C | ||
| ENST00000288774.7:c.418G>C | ENSP00000288774.3:p.Gly140Arg | |
| ENST00000447513.6:c.418G>C | ENSP00000407922.2:p.Gly140Arg | |
| ENST00000502666.1:c.623G>C | ENSP00000461951.1:n.623G>C | |
| ENST00000507596.5:c.418G>C | ENSP00000424291.1:p.Gly140Arg | |
| ENST00000508384.5:c.-15G>C | ENSP00000464289.1:n.-15G>C | |
| ENST00000510434.1:c.418G>C | ENSP00000423051.1:p.Gly140Arg | |
| ENST00000515760.1:n.552G>C | ||
| NM_002617.3:c.418G>C | NP_002608.1:p.Gly140Arg | |
| NM_153818.1:c.418G>C | NP_722540.1:p.Gly140Arg | |
| XM_011541573.1:c.418G>C | XP_011539875.1:p.Gly140Arg | |
| XM_011541574.1:c.-15G>C | XP_011539876.1:n.-15G>C | |
| XM_011541575.1:c.-15G>C | XP_011539877.1:n.-15G>C | |
| XM_011541576.1:c.418G>C | XP_011539878.1:p.Gly140Arg | |
| XR_946666.1:n.538G>C | ||
| XM_011541576.2:c.418G>C | XP_011539878.1:p.Gly140Arg | |
| XR_946666.2:n.487G>C | ||
| NM_001374425.1:c.418G>C | NP_001361354.1:p.Gly140Arg | |
| NM_001374426.1:c.-15G>C | NP_001361355.1:n.-15G>C | |
| NM_001374427.1:c.-15G>C | NP_001361356.1:n.-15G>C | |
| NM_002617.4:c.418G>C MANE Select | NP_002608.1:p.Gly140Arg | |
| NM_153818.2:c.418G>C | NP_722540.1:p.Gly140Arg | |
| NR_164636.1:n.537G>C |