Linked Data
ClinVar Variation Id:
195267
ClinVar RCV Id:
RCV000175828
dbSNP Id:
rs794727283
gnomAD v2:
1-43408931-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42943260C>T , CM000663.2:g.42943260C>T | GRCh38 |
| NC_000001.10:g.43408931C>T , CM000663.1:g.43408931C>T | GRCh37 |
| NC_000001.9:g.43181518C>T | NCBI36 |
| NG_008232.1:g.20917G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.80G>A MANE Select | ENSP00000416293.2:p.Gly27Asp | |
| ENST00000674765.1:c.80G>A | ENSP00000501811.1:p.Gly27Asp | |
| ENST00000675112.1:n.103G>A | ||
| ENST00000372500.4:c.19-12054G>A | ENSP00000361578.4:n.19-12054G>A | |
| ENST00000415851.6:n.297G>A | ||
| ENST00000426263.7:c.80G>A | ENSP00000416293.2:p.Gly27Asp | |
| ENST00000625233.2:n.288G>A | ||
| ENST00000628173.1:n.299G>A | ||
| ENST00000630287.2:c.80G>A | ENSP00000486694.1:p.Gly27Asp | |
| ENST00000630821.1:n.297G>A | ||
| NM_006516.2:c.80G>A | NP_006507.2:p.Gly27Asp | |
| NM_006516.3:c.80G>A | NP_006507.2:p.Gly27Asp | |
| NM_006516.4:c.80G>A MANE Select | NP_006507.2:p.Gly27Asp |