Linked Data
ClinVar Variation Id:
161791
ClinVar RCV Id:
RCV000149327
dbSNP Id:
rs193921034
gnomAD v4:
1-33571681-C-A
COSMIC:
COSM1179007
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.33571681C>A , CM000663.2:g.33571681C>A | GRCh38 |
| NC_000001.10:g.34037281C>A , CM000663.1:g.34037281C>A | GRCh37 |
| NC_000001.9:g.33809868C>A | NCBI36 |
| NG_053181.1:g.599162G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373381.9:c.7808G>T MANE Select | ENSP00000362479.4:p.Arg2603Leu | |
| ENST00000373388.7:c.7814G>T | ENSP00000362486.3:p.Arg2605Leu | |
| ENST00000241312.8:c.7814G>T | ENSP00000241312.4:p.Arg2605Leu | |
| ENST00000373381.8:c.7808G>T | ENSP00000362479.4:p.Arg2603Leu | |
| ENST00000373388.6:c.7814G>T | ENSP00000362486.3:p.Arg2605Leu | |
| ENST00000465819.1:n.131G>T | ||
| ENST00000619121.4:c.7688G>T | ENSP00000483463.1:p.Arg2563Leu | |
| NM_001281956.1:c.7808G>T | NP_001268885.1:p.Arg2603Leu | |
| NM_052896.4:c.7814G>T | NP_443128.2:p.Arg2605Leu | |
| XM_011540572.1:c.7808G>T | XP_011538874.1:p.Arg2603Leu | |
| XM_017000185.1:c.7808G>T | XP_016855674.1:p.Arg2603Leu | |
| XM_017000188.1:c.7688G>T | XP_016855677.1:p.Arg2563Leu | |
| XM_017000190.1:c.7073G>T | XP_016855679.1:p.Arg2358Leu | |
| XM_017000191.1:c.7808G>T | XP_016855680.1:p.Arg2603Leu | |
| XM_024452878.1:c.7808G>T | XP_024308646.1:p.Arg2603Leu | |
| XR_002959290.1:n.7979G>T | ||
| XR_002959291.1:n.7808G>T | ||
| XR_002959295.1:n.7979G>T | ||
| XR_002959296.1:n.7717G>T | ||
| NM_001281956.2:c.7808G>T MANE Select | NP_001268885.1:p.Arg2603Leu | |
| NM_052896.5:c.7814G>T | NP_443128.2:p.Arg2605Leu |