Linked Data
ClinVar Variation Id:
2262556
ClinVar RCV Id:
RCV002778458
dbSNP Id:
rs952018297
gnomAD v2:
19-18266994-A-C
gnomAD v3:
19-18156184-A-C
gnomAD v4:
19-18156184-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18156184A>C , CM000681.2:g.18156184A>C | GRCh38 |
| NC_000019.9:g.18266994A>C , CM000681.1:g.18266994A>C | GRCh37 |
| NC_000019.8:g.18127994A>C | NCBI36 |
| NG_033010.1:g.8007A>C | |
| NG_033010.2:g.8007A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222254.13:c.305A>C MANE Select | ENSP00000222254.6:p.Asp102Ala | |
| ENST00000617130.5:c.305A>C | ENSP00000477864.2:p.Asp102Ala | |
| ENST00000617642.2:c.305A>C | ENSP00000484714.2:p.Asp102Ala | |
| ENST00000222254.12:c.305A>C | ENSP00000222254.6:p.Asp102Ala | |
| ENST00000426902.5:c.305A>C | ENSP00000395636.1:p.Asp102Ala | |
| ENST00000593731.1:c.305A>C | ENSP00000471914.1:p.Asp102Ala | |
| ENST00000617130.4:c.305A>C | ENSP00000477864.1:p.Asp102Ala | |
| ENST00000617642.1:c.305A>C | ENSP00000484714.1:p.Asp102Ala | |
| NM_005027.3:c.305A>C | NP_005018.1:p.Asp102Ala | |
| NR_073517.1:n.845A>C | ||
| NM_005027.4:c.305A>C MANE Select | NP_005018.2:p.Asp102Ala | |
| NR_073517.2:n.860A>C | ||
| NR_162071.1:n.860A>C |