Linked Data
ClinVar Variation Id:
143857
ClinVar RCV Id:
RCV000133396
dbSNP Id:
rs587777605
ExAC:
X:107148823 G / A
gnomAD v2:
X-107148823-G-A
gnomAD v4:
X-107905593-G-A
PubMed:
PMID:24115387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107905593G>A , CM000685.2:g.107905593G>A | GRCh38 |
| NC_000023.10:g.107148823G>A , CM000685.1:g.107148823G>A | GRCh37 |
| NC_000023.9:g.107035479G>A | NCBI36 |
| NG_011907.1:g.84740G>A | |
| NG_011907.2:g.84740G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262843.11:c.1040G>A MANE Select | ENSP00000262843.6:p.Arg347Gln | |
| ENST00000262843.10:c.1040G>A | ENSP00000262843.6:p.Arg347Gln | |
| ENST00000443968.2:c.1040G>A | ENSP00000413976.2:p.Arg347Gln | |
| NM_012216.3:c.1040G>A | NP_036348.2:p.Arg347Gln | |
| NM_052817.2:c.1040G>A | NP_438112.2:p.Arg347Gln | |
| NR_110395.1:n.327-9233C>T | ||
| XM_005262062.3:c.980G>A | XP_005262119.1:p.Arg327Gln | |
| XM_005262062.5:c.980G>A | XP_005262119.1:p.Arg327Gln | |
| XM_017029239.2:c.980G>A | XP_016884728.1:p.Arg327Gln | |
| NM_012216.4:c.1040G>A MANE Select | NP_036348.2:p.Arg347Gln | |
| NM_052817.3:c.1040G>A | NP_438112.2:p.Arg347Gln | |
| NM_001382751.1:c.980G>A | NP_001369680.1:p.Arg327Gln | |
| NM_001382752.1:c.980G>A | NP_001369681.1:p.Arg327Gln |