Linked Data
dbSNP Id:
rs767919134
ExAC:
17:40839689 A / G
gnomAD v2:
17-40839689-A-G
gnomAD v3:
17-42687671-A-G
gnomAD v4:
17-42687671-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42687671A>G , CM000679.2:g.42687671A>G | GRCh38 |
| NC_000017.10:g.40839689A>G , CM000679.1:g.40839689A>G | GRCh37 |
| NC_000017.9:g.38093215A>G | NCBI36 |
| NG_042091.1:g.10058A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264638.9:c.1045-49A>G MANE Select | ENSP00000264638.3:n.1045-49A>G | |
| ENST00000264638.8:c.1045-49A>G | ENSP00000264638.3:n.1045-49A>G | |
| ENST00000586801.1:n.411A>G | ||
| ENST00000591662.1:c.1045-49A>G | ENSP00000466571.1:n.1045-49A>G | |
| NM_003632.2:c.1045-49A>G | NP_003623.1:n.1045-49A>G | |
| XM_005257748.3:c.817-49A>G | XP_005257805.1:n.817-49A>G | |
| XM_005257748.4:c.817-49A>G | XP_005257805.1:n.817-49A>G | |
| XM_017025238.1:c.1045-49A>G | XP_016880727.1:n.1045-49A>G | |
| XM_024451011.1:c.1045-49A>G | XP_024306779.1:n.1045-49A>G | |
| NM_003632.3:c.1045-49A>G MANE Select | NP_003623.1:n.1045-49A>G |