Linked Data
ClinVar Variation Id:
476549
ClinVar RCV Id:
RCV000549430
dbSNP Id:
rs1268762655
gnomAD v2:
2-238258816-C-T
gnomAD v3:
2-237350173-C-T
gnomAD v4:
2-237350173-C-T
COSMIC:
COSM287149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237350173C>T , CM000664.2:g.237350173C>T | GRCh38 |
| NC_000002.11:g.238258816C>T , CM000664.1:g.238258816C>T | GRCh37 |
| NC_000002.10:g.237923555C>T | NCBI36 |
| NG_008676.1:g.69035G>A , LRG_473:g.69035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6235G>A | ENSP00000315873.4:p.Gly2079Arg | |
| ENST00000295550.9:c.6853G>A MANE Select | ENSP00000295550.4:p.Gly2285Arg | |
| ENST00000295550.8:c.6853G>A | ENSP00000295550.4:p.Gly2285Arg | |
| ENST00000347401.7:c.5032G>A | ENSP00000315609.4:p.Gly1678Arg | |
| ENST00000353578.8:c.6235G>A | ENSP00000315873.4:p.Gly2079Arg | |
| ENST00000409809.5:c.6235G>A | ENSP00000386844.1:p.Gly2079Arg | |
| ENST00000472056.5:c.5032G>A | ENSP00000418285.1:p.Gly1678Arg | |
| ENST00000491769.1:n.1107G>A | ||
| NM_004369.3:c.6853G>A , LRG_473t1:c.6853G>A | NP_004360.2:p.Gly2285Arg | |
| NM_057166.4:c.5032G>A | NP_476507.3:p.Gly1678Arg | |
| NM_057167.3:c.6235G>A | NP_476508.2:p.Gly2079Arg | |
| XM_005246065.1:c.6253G>A | XP_005246122.1:p.Gly2085Arg | |
| XM_005246066.1:c.5632G>A | XP_005246123.1:p.Gly1878Arg | |
| XM_006712253.1:c.6352G>A | XP_006712316.1:p.Gly2118Arg | |
| XM_011510574.1:c.6850G>A | XP_011508876.1:p.Gly2284Arg | |
| XM_011510575.1:c.4447G>A | XP_011508877.1:p.Gly1483Arg | |
| XM_017003304.1:c.4447G>A | XP_016858793.1:p.Gly1483Arg | |
| XM_024452684.1:c.5632G>A | XP_024308452.1:p.Gly1878Arg | |
| NM_004369.4:c.6853G>A MANE Select | NP_004360.2:p.Gly2285Arg | |
| NM_057166.5:c.5032G>A | NP_476507.3:p.Gly1678Arg | |
| NM_057167.4:c.6235G>A | NP_476508.2:p.Gly2079Arg |