Linked Data
dbSNP Id:
rs1179837305
gnomAD v2:
15-22969409-A-T
gnomAD v3:
15-22903659-T-A
gnomAD v4:
15-22903659-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903659T>A , CM000677.2:g.22903659T>A | GRCh38 |
| NC_000015.9:g.22969409A>T , CM000677.1:g.22969409A>T | GRCh37 |
| NC_000015.8:g.20520850A>T | NCBI36 |
| NG_054889.1:g.82248A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612288.2:c.2582+47A>T | ENSP00000479802.2:n.2582+47A>T | |
| ENST00000617928.5:c.2588+47A>T MANE Select | ENSP00000481038.1:n.2588+47A>T | |
| ENST00000610365.4:c.2588+47A>T | ENSP00000478779.1:n.2588+47A>T | |
| ENST00000617556.4:c.1295+47A>T | ENSP00000480525.1:n.1295+47A>T | |
| ENST00000617928.4:c.2588+47A>T | ENSP00000481038.1:n.2588+47A>T | |
| ENST00000619348.4:n.1735+47A>T | ||
| NM_001033028.1:c.1295+47A>T | NP_001028200.1:n.1295+47A>T | |
| NM_001287810.1:c.2588+47A>T | NP_001274739.1:n.2588+47A>T | |
| NM_014608.3:c.2588+47A>T | NP_055423.1:n.2588+47A>T | |
| XM_011543873.1:c.2987+47A>T | XP_011542175.1:n.2987+47A>T | |
| XM_011543874.1:c.2987+47A>T | XP_011542176.1:n.2987+47A>T | |
| XM_011543875.1:c.2987+47A>T | XP_011542177.1:n.2987+47A>T | |
| XM_011543876.1:c.2582+47A>T | XP_011542178.1:n.2582+47A>T | |
| NM_001033028.2:c.1295+47A>T | NP_001028200.1:n.1295+47A>T | |
| NM_001287810.3:c.2588+47A>T | NP_001274739.1:n.2588+47A>T | |
| NM_001324119.2:c.2690+47A>T | NP_001311048.1:n.2690+47A>T | |
| NM_001324120.2:c.2588+47A>T | NP_001311049.1:n.2588+47A>T | |
| NM_001324122.2:c.908+47A>T | NP_001311051.1:n.908+47A>T | |
| NM_001324123.2:c.2588+47A>T | NP_001311052.1:n.2588+47A>T | |
| NM_001324124.2:c.2498+47A>T | NP_001311053.1:n.2498+47A>T | |
| NM_001324125.2:c.2222+47A>T | NP_001311054.1:n.2222+47A>T | |
| NM_001324126.2:c.2486+47A>T | NP_001311055.1:n.2486+47A>T | |
| NM_014608.5:c.2588+47A>T | NP_055423.1:n.2588+47A>T | |
| XM_011543873.3:c.2987+47A>T | XP_011542175.1:n.2987+47A>T | |
| XM_011543874.2:c.2987+47A>T | XP_011542176.1:n.2987+47A>T | |
| XM_011543876.3:c.2684+47A>T | XP_011542178.2:n.2684+47A>T | |
| XM_017022023.2:c.3089+47A>T | XP_016877512.1:n.3089+47A>T | |
| XM_017022024.2:c.2987+47A>T | XP_016877513.1:n.2987+47A>T | |
| XM_024449876.1:c.2987+47A>T | XP_024305644.1:n.2987+47A>T | |
| XM_024449877.1:c.2588+47A>T | XP_024305645.1:n.2588+47A>T | |
| NM_014608.6:c.2588+47A>T MANE Select | NP_055423.1:n.2588+47A>T | |
| NM_001287810.4:c.2588+47A>T | NP_001274739.1:n.2588+47A>T | |
| NM_001324122.3:c.908+47A>T | NP_001311051.1:n.908+47A>T | |
| NM_001324123.3:c.2588+47A>T | NP_001311052.1:n.2588+47A>T | |
| NM_001324124.3:c.2498+47A>T | NP_001311053.1:n.2498+47A>T | |
| NM_001324125.3:c.2222+47A>T | NP_001311054.1:n.2222+47A>T | |
| NM_001324126.3:c.2486+47A>T | NP_001311055.1:n.2486+47A>T | |
| NM_001033028.3:c.1295+47A>T | NP_001028200.1:n.1295+47A>T |