Linked Data
ClinVar Variation Id:
264348
ClinVar RCV Id:
RCV000245286
RCV000577950
RCV000578061
RCV000578006
RCV000578008
RCV001270098
RCV001859463
dbSNP Id:
rs771180054
ExAC:
20:32005606 C / T
gnomAD v2:
20-32005606-C-T
gnomAD v3:
20-33417800-C-T
gnomAD v4:
20-33417800-C-T
COSMIC:
COSM5057239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33417800C>T , CM000682.2:g.33417800C>T | GRCh38 |
| NC_000020.10:g.32005606C>T , CM000682.1:g.32005606C>T | GRCh37 |
| NC_000020.9:g.31469267C>T | NCBI36 |
| NG_011622.1:g.31093G>A , LRG_332:g.31093G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.620G>A MANE Select | ENSP00000217381.2:p.Arg207Gln | |
| ENST00000217381.2:c.620G>A | ENSP00000217381.2:p.Arg207Gln | |
| NM_003098.2:c.620G>A , LRG_332t1:c.620G>A | NP_003089.1:p.Arg207Gln | |
| XM_005260517.1:c.620G>A | XP_005260574.1:p.Arg207Gln | |
| XM_011529007.1:c.620G>A | XP_011527309.1:p.Arg207Gln | |
| XM_011529008.1:c.620G>A | XP_011527310.1:p.Arg207Gln | |
| XR_936612.1:n.853G>A | ||
| XM_024451971.1:c.293G>A | XP_024307739.1:p.Arg98Gln | |
| NM_003098.3:c.620G>A MANE Select | NP_003089.1:p.Arg207Gln |