Linked Data
ClinVar Variation Id:
504352
dbSNP Id:
rs754050324
ExAC:
17:10543657 G / A
gnomAD v2:
17-10543657-G-A
gnomAD v4:
17-10640340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10640340G>A , CM000679.2:g.10640340G>A | GRCh38 |
| NC_000017.10:g.10543657G>A , CM000679.1:g.10543657G>A | GRCh37 |
| NC_000017.9:g.10484382G>A | NCBI36 |
| NG_011537.1:g.21959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583535.6:c.2419C>T MANE Select | ENSP00000464317.1:p.Gln807Ter | |
| ENST00000583535.5:c.2419C>T | ENSP00000464317.1:p.Gln807Ter | |
| NM_002470.3:c.2419C>T | NP_002461.2:p.Gln807Ter | |
| XM_011523870.1:c.2419C>T | XP_011522172.1:p.Gln807Ter | |
| XM_011523871.1:c.2419C>T | XP_011522173.1:p.Gln807Ter | |
| XM_011523872.1:c.2419C>T | XP_011522174.1:p.Gln807Ter | |
| XM_011523870.3:c.2419C>T | XP_011522172.1:p.Gln807Ter | |
| XM_011523871.2:c.2419C>T | XP_011522173.1:p.Gln807Ter | |
| NM_002470.4:c.2419C>T MANE Select | NP_002461.2:p.Gln807Ter |