Linked Data
ClinVar Variation Id:
3187758
ClinVar RCV Id:
RCV004477601
dbSNP Id:
rs202003178
ExAC:
X:55515339 C / T
gnomAD v2:
X-55515339-C-T
gnomAD v4:
X-55488906-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55488906C>T , CM000685.2:g.55488906C>T | GRCh38 |
| NC_000023.10:g.55515339C>T , CM000685.1:g.55515339C>T | GRCh37 |
| NC_000023.9:g.55532064C>T | NCBI36 |
| NG_021371.1:g.5293G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000500968.4:c.34G>A MANE Select | ENSP00000423333.2:p.Gly12Ser | |
| ENST00000500968.3:c.34G>A | ENSP00000423333.2:p.Gly12Ser | |
| NM_201286.3:c.34G>A | NP_958443.1:p.Gly12Ser | |
| XM_005261993.2:c.34G>A | XP_005262050.1:p.Gly12Ser | |
| XM_017029299.1:c.34G>A | XP_016884788.1:p.Gly12Ser | |
| XM_017029300.1:c.34G>A | XP_016884789.1:p.Gly12Ser | |
| XM_017029301.1:c.34G>A | XP_016884790.1:p.Gly12Ser | |
| NM_201286.4:c.34G>A MANE Select | NP_958443.1:p.Gly12Ser |