Linked Data
ClinVar Variation Id:
291161
ClinVar RCV Id:
RCV000309302
dbSNP Id:
rs772129850
ExAC:
X:69516998 A / G
gnomAD v2:
X-69516998-A-G
gnomAD v3:
X-70297148-A-G
gnomAD v4:
X-70297148-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70297148A>G , CM000685.2:g.70297148A>G | GRCh38 |
| NC_000023.10:g.69516998A>G , CM000685.1:g.69516998A>G | GRCh37 |
| NC_000023.9:g.69433723A>G | NCBI36 |
| NG_016799.1:g.12120A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374403.4:c.386A>G MANE Select | ENSP00000363524.3:p.Lys129Arg | |
| ENST00000374403.3:c.386A>G | ENSP00000363524.3:p.Lys129Arg | |
| ENST00000485406.1:n.631A>G | ||
| NM_012310.4:c.386A>G | NP_036442.3:p.Lys129Arg | |
| XM_011530893.1:c.386A>G | XP_011529195.1:p.Lys129Arg | |
| NM_012310.5:c.386A>G MANE Select | NP_036442.3:p.Lys129Arg |