Linked Data
ClinVar Variation Id:
204149
ClinVar RCV Id:
RCV000186356
dbSNP Id:
rs796052066
gnomAD v4:
2-240878790-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878790C>A , CM000664.2:g.240878790C>A | GRCh38 |
| NC_000002.11:g.241818207C>A , CM000664.1:g.241818207C>A | GRCh37 |
| NC_000002.10:g.241466880C>A | NCBI36 |
| NG_008005.1:g.15046C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1148C>A MANE Select | ENSP00000302620.3:p.Ala383Asp | |
| ENST00000307503.3:c.1148C>A | ENSP00000302620.3:p.Ala383Asp | |
| ENST00000470255.1:n.926C>A | ||
| NM_000030.2:c.1148C>A | NP_000021.1:p.Ala383Asp | |
| NM_000030.3:c.1148C>A MANE Select | NP_000021.1:p.Ala383Asp |