Linked Data
ClinVar Variation Id:
2949366
ClinVar RCV Id:
RCV003802092
dbSNP Id:
rs1248710856
gnomAD v2:
X-30326973-C-G
gnomAD v3:
X-30308856-C-G
gnomAD v4:
X-30308856-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308856C>G , CM000685.2:g.30308856C>G | GRCh38 |
| NC_000023.10:g.30326973C>G , CM000685.1:g.30326973C>G | GRCh37 |
| NC_000023.9:g.30236894C>G | NCBI36 |
| NG_009814.1:g.5523G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.508G>C MANE Select | ENSP00000368253.4:p.Ala170Pro | |
| ENST00000378970.4:c.508G>C | ENSP00000368253.4:p.Ala170Pro | |
| NM_000475.4:c.508G>C | NP_000466.2:p.Ala170Pro | |
| NM_000475.5:c.508G>C MANE Select | NP_000466.2:p.Ala170Pro |