Linked Data
ClinVar Variation Id:
422585
dbSNP Id:
rs1064795875
gnomAD v4:
5-98902916-T-C
PubMed:
PMID:28866611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.98902916T>C , CM000667.2:g.98902916T>C | GRCh38 |
| NC_000005.9:g.98238620T>C , CM000667.1:g.98238620T>C | GRCh37 |
| NC_000005.8:g.98266520T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000511067.3:c.421A>G | ENSP00000479403.2:p.Arg141Gly | |
| ENST00000706140.1:n.718A>G | ||
| ENST00000706141.1:c.421A>G | ENSP00000516225.1:p.Arg141Gly | |
| ENST00000614616.5:c.421A>G MANE Select | ENSP00000483667.1:p.Arg141Gly | |
| ENST00000284049.7:c.421A>G | ENSP00000284049.3:p.Arg141Gly | |
| ENST00000614616.4:c.421A>G | ENSP00000483667.1:p.Arg141Gly | |
| NM_001270.2:c.421A>G | NP_001261.2:p.Arg141Gly | |
| XM_005271866.3:c.421A>G | XP_005271923.1:p.Arg141Gly | |
| XM_005271867.3:c.421A>G | XP_005271924.1:p.Arg141Gly | |
| XM_011543112.1:c.421A>G | XP_011541414.1:p.Arg141Gly | |
| XR_427702.2:n.653A>G | ||
| XR_948231.1:n.654A>G | ||
| NM_001364113.1:c.421A>G | NP_001351042.1:p.Arg141Gly | |
| NR_157078.1:n.1745A>G | ||
| NR_157079.1:n.1745A>G | ||
| XM_005271867.5:c.421A>G | XP_005271924.1:p.Arg141Gly | |
| XM_024454344.1:c.421A>G | XP_024310112.1:p.Arg141Gly | |
| XM_024454345.1:c.421A>G | XP_024310113.1:p.Arg141Gly | |
| XR_001741986.2:n.1803A>G | ||
| XR_002959841.1:n.1803A>G | ||
| NM_001270.4:c.421A>G MANE Select | NP_001261.2:p.Arg141Gly | |
| NM_001364113.3:c.421A>G | NP_001351042.1:p.Arg141Gly | |
| NM_001376194.2:c.421A>G | NP_001363123.1:p.Arg141Gly | |
| NR_157078.3:n.1038A>G | ||
| NR_157079.3:n.1038A>G |