Linked Data
dbSNP Id:
rs1295954761
gnomAD v2:
8-72274503-A-T
gnomAD v3:
8-71362268-A-T
gnomAD v4:
8-71362268-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71362268A>T , CM000670.2:g.71362268A>T | GRCh38 |
| NC_000008.10:g.72274503A>T , CM000670.1:g.72274503A>T | GRCh37 |
| NC_000008.9:g.72437057A>T | NCBI36 |
| NG_011735.2:g.4965T>A | |
| NG_011735.3:g.190863T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643681.1:c.34-5757T>A | ENSP00000495390.1:n.34-5757T>A | |
| ENST00000644229.1:c.34-5757T>A | ENSP00000494568.1:n.34-5757T>A | |
| ENST00000644712.1:c.34-5757T>A | ENSP00000496188.1:n.34-5757T>A | |
| ENST00000645793.1:c.-54-5757T>A | ENSP00000496255.1:n.-54-5757T>A | |
| ENST00000647540.1:c.-54-5757T>A | ENSP00000494438.1:n.-54-5757T>A | |
| XM_011517481.1:c.22-5757T>A | XP_011515783.1:n.22-5757T>A | |
| XM_011517482.1:c.34-5757T>A | XP_011515784.1:n.34-5757T>A | |
| XM_011517485.1:c.-54-5757T>A | XP_011515787.1:n.-54-5757T>A | |
| XM_011517486.1:c.-54-5757T>A | XP_011515788.1:n.-54-5757T>A | |
| XM_011517487.1:c.-54-5757T>A | XP_011515789.1:n.-54-5757T>A | |
| XM_011517489.1:c.12-5757T>A | XP_011515791.1:n.12-5757T>A | |
| XM_011517491.1:c.-25-5757T>A | XP_011515793.1:n.-25-5757T>A | |
| NM_172059.4:c.34-5757T>A | NP_742056.2:n.34-5757T>A | |
| XM_011517484.3:c.34-5757T>A | XP_011515786.2:n.34-5757T>A | |
| XM_017013201.1:c.34-5757T>A | XP_016868690.1:n.34-5757T>A | |
| XM_017013202.1:c.34-5757T>A | XP_016868691.1:n.34-5757T>A | |
| XM_017013203.2:c.34-5757T>A | XP_016868692.1:n.34-5757T>A | |
| XM_017013204.2:c.34-5757T>A | XP_016868693.1:n.34-5757T>A | |
| XM_017013205.2:c.34-5757T>A | XP_016868694.1:n.34-5757T>A | |
| XM_017013206.1:c.-54-5757T>A | XP_016868695.1:n.-54-5757T>A | |
| XM_017013207.2:c.34-5757T>A | XP_016868696.1:n.34-5757T>A | |
| XM_017013210.2:c.34-5757T>A | XP_016868699.1:n.34-5757T>A | |
| XM_017013211.2:c.12-5757T>A | XP_016868700.1:n.12-5757T>A | |
| NM_001370333.1:c.34-5757T>A | NP_001357262.1:n.34-5757T>A | |
| NM_001370334.1:c.-54-5757T>A | NP_001357263.1:n.-54-5757T>A | |
| NM_001370335.1:c.-54-5757T>A | NP_001357264.1:n.-54-5757T>A | |
| NM_001370336.1:c.34-5757T>A | NP_001357265.1:n.34-5757T>A | |
| NM_172059.5:c.34-5757T>A | NP_742056.2:n.34-5757T>A |