Linked Data
ClinVar Variation Id:
1505589
ClinVar RCV Id:
RCV002004135
dbSNP Id:
rs1233903791
gnomAD v3:
2-219060457-G-T
gnomAD v4:
2-219060457-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060457G>T , CM000664.2:g.219060457G>T | GRCh38 |
| NC_000002.11:g.219925179G>T , CM000664.1:g.219925179G>T | GRCh37 |
| NC_000002.10:g.219633423G>T | NCBI36 |
| NG_016741.1:g.5060C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.11C>A MANE Select | ENSP00000295731.5:p.Ala4Asp | |
| ENST00000295731.6:c.11C>A | ENSP00000295731.5:p.Ala4Asp | |
| NM_002181.3:c.11C>A | NP_002172.2:p.Ala4Asp | |
| NM_002181.4:c.11C>A MANE Select | NP_002172.2:p.Ala4Asp |