Linked Data
dbSNP Id:
rs1298820223
gnomAD v2:
8-143312713-G-A
gnomAD v3:
8-142231352-G-A
gnomAD v4:
8-142231352-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142231352G>A , CM000670.2:g.142231352G>A | GRCh38 |
| NC_000008.10:g.143312713G>A , CM000670.1:g.143312713G>A | GRCh37 |
| NC_000008.9:g.143310620G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524325.6:c.1447-1773C>T MANE Select | ENSP00000428763.2:n.1447-1773C>T | |
| ENST00000307180.4:c.1450-1773C>T | ENSP00000303437.4:n.1450-1773C>T | |
| ENST00000520166.5:c.1450-1773C>T | ENSP00000427770.2:n.1450-1773C>T | |
| ENST00000524325.5:c.1447-1773C>T | ENSP00000428763.2:n.1447-1773C>T | |
| NM_145003.4:c.1447-1773C>T | NP_659440.2:n.1447-1773C>T | |
| NM_001363740.2:c.1450-1773C>T | NP_001350669.1:n.1450-1773C>T | |
| NM_001366901.1:c.1444-1773C>T | NP_001353830.1:n.1444-1773C>T | |
| XM_017013176.1:c.1915-1773C>T | XP_016868665.1:n.1915-1773C>T | |
| XR_001746132.1:n.472C>T | ||
| NM_145003.5:c.1447-1773C>T MANE Select | NP_659440.2:n.1447-1773C>T |