Linked Data
dbSNP Id:
rs2177268
gnomAD v2:
3-49439725-A-T
gnomAD v3:
3-49402292-A-T
gnomAD v4:
3-49402292-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49402292A>T , CM000665.2:g.49402292A>T | GRCh38 |
| NC_000003.11:g.49439725A>T , CM000665.1:g.49439725A>T | GRCh37 |
| NC_000003.10:g.49414729A>T | NCBI36 |
| NG_051308.1:g.14806T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704381.1:c.-3+9528T>A | ENSP00000515884.1:n.-3+9528T>A | |
| ENST00000418115.6:c.-3+9528T>A MANE Select | ENSP00000400175.1:n.-3+9528T>A | |
| ENST00000422781.6:c.-3+9528T>A | ENSP00000413587.1:n.-3+9528T>A | |
| ENST00000445425.6:c.-3+4420T>A | ENSP00000408402.3:n.-3+4420T>A | |
| ENST00000454011.7:c.-3+9528T>A | ENSP00000394483.2:n.-3+9528T>A | |
| ENST00000676712.2:c.-3+9528T>A | ENSP00000504603.1:n.-3+9528T>A | |
| ENST00000677684.1:c.-3+9528T>A | ENSP00000504494.1:n.-3+9528T>A | |
| ENST00000678200.1:c.-3+10112T>A | ENSP00000504180.1:n.-3+10112T>A | |
| ENST00000678921.2:c.-3+9528T>A | ENSP00000503490.1:n.-3+9528T>A | |
| ENST00000679208.1:c.-3+9031T>A | ENSP00000503282.1:n.-3+9031T>A | |
| ENST00000418115.5:c.-3+9528T>A | ENSP00000400175.1:n.-3+9528T>A | |
| ENST00000422781.5:c.-3+9528T>A | ENSP00000413587.1:n.-3+9528T>A | |
| ENST00000431929.2:n.278+9528T>A | ||
| ENST00000445425.4:c.-3+4420T>A | ENSP00000408402.1:n.-3+4420T>A | |
| ENST00000454011.6:c.-3+9528T>A | ENSP00000394483.2:n.-3+9528T>A | |
| NM_001313941.1:c.-3+4420T>A | NP_001300870.1:n.-3+4420T>A | |
| NM_001313943.1:c.-3+9528T>A | NP_001300872.1:n.-3+9528T>A | |
| NM_001313944.1:c.-3+9528T>A | NP_001300873.1:n.-3+9528T>A | |
| NM_001313945.1:c.-148+9553T>A | NP_001300874.1:n.-148+9553T>A | |
| NM_001313946.1:c.-3+9528T>A | NP_001300875.1:n.-3+9528T>A | |
| NM_001313947.1:c.-3+9528T>A | NP_001300876.1:n.-3+9528T>A | |
| NM_001664.2:c.-3+9528T>A | NP_001655.1:n.-3+9528T>A | |
| NM_001664.3:c.-3+9528T>A | NP_001655.1:n.-3+9528T>A | |
| XM_011533695.1:c.-3+9031T>A | XP_011531997.1:n.-3+9031T>A | |
| NM_001664.4:c.-3+9528T>A MANE Select | NP_001655.1:n.-3+9528T>A | |
| NM_001313941.2:c.-3+4420T>A | NP_001300870.1:n.-3+4420T>A | |
| NM_001313943.2:c.-3+9528T>A | NP_001300872.1:n.-3+9528T>A | |
| NM_001313944.2:c.-3+9528T>A | NP_001300873.1:n.-3+9528T>A | |
| NM_001313945.2:c.-148+9553T>A | NP_001300874.1:n.-148+9553T>A | |
| NM_001313946.2:c.-3+9528T>A | NP_001300875.1:n.-3+9528T>A | |
| NM_001313947.2:c.-3+9528T>A | NP_001300876.1:n.-3+9528T>A |