Linked Data
ClinVar Variation Id:
2293655
ClinVar RCV Id:
RCV002841700
dbSNP Id:
rs1436860220
gnomAD v3:
17-10639618-T-G
gnomAD v4:
17-10639618-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10639618T>G , CM000679.2:g.10639618T>G | GRCh38 |
| NC_000017.10:g.10542935T>G , CM000679.1:g.10542935T>G | GRCh37 |
| NC_000017.9:g.10483660T>G | NCBI36 |
| NG_011537.1:g.22681A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583535.6:c.2867A>C MANE Select | ENSP00000464317.1:p.Asp956Ala | |
| ENST00000583535.5:c.2867A>C | ENSP00000464317.1:p.Asp956Ala | |
| NM_002470.3:c.2867A>C | NP_002461.2:p.Asp956Ala | |
| XM_011523870.1:c.2867A>C | XP_011522172.1:p.Asp956Ala | |
| XM_011523871.1:c.2867A>C | XP_011522173.1:p.Asp956Ala | |
| XM_011523872.1:c.2867A>C | XP_011522174.1:p.Asp956Ala | |
| XM_011523870.3:c.2867A>C | XP_011522172.1:p.Asp956Ala | |
| XM_011523871.2:c.2867A>C | XP_011522173.1:p.Asp956Ala | |
| NM_002470.4:c.2867A>C MANE Select | NP_002461.2:p.Asp956Ala |