Linked Data
ClinVar Variation Id:
1991793
ClinVar RCV Id:
RCV002776407
dbSNP Id:
rs771566525
ExAC:
X:47487032 C / T
gnomAD v2:
X-47487032-C-T
gnomAD v3:
X-47627633-C-T
gnomAD v4:
X-47627633-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47627633C>T , CM000685.2:g.47627633C>T | GRCh38 |
| NC_000023.10:g.47487032C>T , CM000685.1:g.47487032C>T | GRCh37 |
| NC_000023.9:g.47371976C>T | NCBI36 |
| NG_009893.1:g.7673G>A , LRG_129:g.7673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396992.8:c.412G>A MANE Select | ENSP00000380189.3:p.Gly138Ser | |
| ENST00000640573.1:n.650G>A | ||
| ENST00000247153.7:c.412G>A | ENSP00000247153.3:p.Gly138Ser | |
| ENST00000377005.6:c.412G>A | ENSP00000366204.2:p.Gly138Ser | |
| ENST00000396992.7:c.412G>A | ENSP00000380189.3:p.Gly138Ser | |
| ENST00000469388.1:c.7G>A | ENSP00000418258.1:p.Gly3Ser | |
| ENST00000485991.5:n.1709G>A | ||
| NM_001145252.1:c.412G>A | NP_001138724.1:p.Gly138Ser | |
| NM_002621.2:c.412G>A , LRG_129t1:c.412G>A | NP_002612.1:p.Gly138Ser | |
| XM_017029575.1:c.7G>A | XP_016885064.1:p.Gly3Ser | |
| NM_001145252.3:c.412G>A MANE Select | NP_001138724.1:p.Gly138Ser |