Linked Data
ClinVar Variation Id:
1363865
ClinVar RCV Id:
RCV001937216
dbSNP Id:
rs1868473928
gnomAD v3:
12-65170132-C-A
gnomAD v4:
12-65170132-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170132C>A , CM000674.2:g.65170132C>A | GRCh38 |
| NC_000012.11:g.65563912C>A , CM000674.1:g.65563912C>A | GRCh37 |
| NC_000012.10:g.63850179C>A | NCBI36 |
| NG_016210.1:g.5562C>A | |
| NG_016210.2:g.5562C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.536C>A MANE Select | ENSP00000308369.2:p.Ala179Asp | |
| ENST00000308330.2:c.536C>A | ENSP00000308369.2:p.Ala179Asp | |
| ENST00000541171.1:n.550C>A | ||
| NM_001167614.1:c.536C>A | NP_001161086.1:p.Ala179Asp | |
| NM_014319.4:c.536C>A | NP_055134.2:p.Ala179Asp | |
| NM_014319.5:c.536C>A MANE Select | NP_055134.2:p.Ala179Asp | |
| NM_001167614.2:c.536C>A | NP_001161086.1:p.Ala179Asp |