Linked Data
dbSNP Id:
rs1790100
gnomAD v2:
12-123656725-G-T
gnomAD v3:
12-123172178-G-T
gnomAD v4:
12-123172178-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123172178G>T , CM000674.2:g.123172178G>T | GRCh38 |
| NC_000012.11:g.123656725G>T , CM000674.1:g.123656725G>T | GRCh37 |
| NC_000012.10:g.122222678G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000606320.6:c.2456+4510C>A MANE Select | ENSP00000475489.1:n.2456+4510C>A | |
| ENST00000302373.8:c.1934+4510C>A | ENSP00000304096.5:n.1934+4510C>A | |
| ENST00000539024.5:c.1437+4510C>A | ||
| ENST00000541076.6:c.2366+4510C>A | ENSP00000445859.2:n.2366+4510C>A | |
| ENST00000541823.1:n.157+4510C>A | ||
| ENST00000545556.6:c.*1902+4510C>A | ENSP00000446249.1:n.*1902+4510C>A | |
| ENST00000606320.5:c.2456+4510C>A | ENSP00000475489.1:n.2456+4510C>A | |
| ENST00000606321.1:c.29+4510C>A | ENSP00000475923.1:n.29+4510C>A | |
| NM_022782.3:c.2456+4510C>A | NP_073619.3:n.2456+4510C>A | |
| NR_103517.1:n.2517+4510C>A | ||
| XM_006719188.2:c.2255+4510C>A | XP_006719251.1:n.2255+4510C>A | |
| XM_006719189.2:c.2000+4510C>A | XP_006719252.1:n.2000+4510C>A | |
| XM_006719191.2:c.1337+4510C>A | XP_006719254.1:n.1337+4510C>A | |
| XM_006719192.2:c.362+4510C>A | XP_006719255.1:n.362+4510C>A | |
| XM_011537736.1:c.2456+4510C>A | XP_011536038.1:n.2456+4510C>A | |
| XM_011537737.1:c.2456+4510C>A | XP_011536039.1:n.2456+4510C>A | |
| XM_011537738.1:c.2456+4510C>A | XP_011536040.1:n.2456+4510C>A | |
| XM_011537739.1:c.2456+4510C>A | XP_011536041.1:n.2456+4510C>A | |
| XM_011537740.1:c.2456+4510C>A | XP_011536042.1:n.2456+4510C>A | |
| XM_011537741.1:c.2456+4510C>A | XP_011536043.1:n.2456+4510C>A | |
| XM_011537742.1:c.2330+4510C>A | XP_011536044.1:n.2330+4510C>A | |
| XM_011537743.1:c.2300+4510C>A | XP_011536045.1:n.2300+4510C>A | |
| XM_011537744.1:c.2456+4510C>A | XP_011536046.1:n.2456+4510C>A | |
| XM_011537745.1:c.2456+4510C>A | XP_011536047.1:n.2456+4510C>A | |
| XM_011537746.1:c.2000+4510C>A | XP_011536048.1:n.2000+4510C>A | |
| XM_011537747.1:c.2456+4510C>A | XP_011536049.1:n.2456+4510C>A | |
| XM_011537748.1:c.2330+4510C>A | XP_011536050.1:n.2330+4510C>A | |
| XM_011537749.1:c.2456+4510C>A | XP_011536051.1:n.2456+4510C>A | |
| XM_011537740.2:c.2456+4510C>A | XP_011536042.1:n.2456+4510C>A | |
| XM_011537741.2:c.2456+4510C>A | XP_011536043.1:n.2456+4510C>A | |
| XM_017018673.1:c.2456+4510C>A | XP_016874162.1:n.2456+4510C>A | |
| XM_017018674.1:c.2355-5389C>A | XP_016874163.1:n.2355-5389C>A | |
| XM_017018675.1:c.2330+4510C>A | XP_016874164.1:n.2330+4510C>A | |
| XM_017018676.1:c.2300+4510C>A | XP_016874165.1:n.2300+4510C>A | |
| XM_017018677.1:c.2456+4510C>A | XP_016874166.1:n.2456+4510C>A | |
| XM_017018678.1:c.2129+4510C>A | XP_016874167.1:n.2129+4510C>A | |
| XM_017018679.1:c.2000+4510C>A | XP_016874168.1:n.2000+4510C>A | |
| XM_017018680.1:c.2000+4510C>A | XP_016874169.1:n.2000+4510C>A | |
| XM_017018681.1:c.1337+4510C>A | XP_016874170.1:n.1337+4510C>A | |
| XM_024448794.1:c.1337+4510C>A | XP_024304562.1:n.1337+4510C>A | |
| XR_001748539.1:n.2710+4510C>A | ||
| XR_001748540.1:n.2682+4510C>A | ||
| XR_001748541.1:n.2682+4510C>A | ||
| XR_001748542.1:n.2682+4510C>A | ||
| XR_001748543.1:n.2556+4510C>A | ||
| XR_001748544.1:n.2682+4510C>A | ||
| NM_022782.4:c.2456+4510C>A MANE Select | NP_073619.3:n.2456+4510C>A | |
| NR_103517.2:n.2420+4510C>A |