Linked Data
ClinVar Variation Id:
1113320
ClinVar RCV Id:
RCV001440640
dbSNP Id:
rs780831995
ExAC:
8:19809405 G / C
gnomAD v2:
8-19809405-G-C
gnomAD v4:
8-19951894-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951894G>C , CM000670.2:g.19951894G>C | GRCh38 |
| NC_000008.10:g.19809405G>C , CM000670.1:g.19809405G>C | GRCh37 |
| NC_000008.9:g.19853685G>C | NCBI36 |
| NG_008855.1:g.17824G>C | |
| NG_008855.2:g.55178G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.375G>C MANE Select | ENSP00000497642.1:p.Ala125= | |
| ENST00000311322.8:c.375G>C | ENSP00000309757.6:p.Ala125= | |
| ENST00000520959.5:c.147G>C | ENSP00000428496.1:p.Ala49= | |
| ENST00000524029.5:c.375G>C | ENSP00000428237.1:p.Ala125= | |
| NM_000237.2:c.375G>C | NP_000228.1:p.Ala125= | |
| NM_000237.3:c.375G>C MANE Select | NP_000228.1:p.Ala125= |