Linked Data
dbSNP Id:
rs35061590
gnomAD v2:
9-124476013-G-T
gnomAD v3:
9-121713734-G-T
gnomAD v4:
9-121713734-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.121713734G>T , CM000671.2:g.121713734G>T | GRCh38 |
| NC_000009.11:g.124476013G>T , CM000671.1:g.124476013G>T | GRCh37 |
| NC_000009.10:g.123515834G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000408936.8:c.362+14276G>T MANE Select | ENSP00000386183.3:n.362+14276G>T | |
| ENST00000699487.1:c.218+12621G>T | ENSP00000514398.1:n.218+12621G>T | |
| ENST00000259371.7:c.278+14276G>T | ENSP00000259371.2:n.278+14276G>T | |
| ENST00000436835.6:c.144+34953G>T | ENSP00000409327.2:n.144+34953G>T | |
| ENST00000259371.6:c.278+14276G>T | ENSP00000259371.2:n.278+14276G>T | |
| ENST00000373782.7:c.89+14276G>T | ENSP00000362887.3:n.89+14276G>T | |
| ENST00000394340.7:c.278+14276G>T | ENSP00000377872.3:n.278+14276G>T | |
| ENST00000408936.7:c.362+14276G>T | ENSP00000386183.3:n.362+14276G>T | |
| ENST00000436835.5:c.-11+34953G>T | ENSP00000409327.1:n.-11+34953G>T | |
| NM_032552.3:c.278+14276G>T | NP_115941.2:n.278+14276G>T | |
| XM_005251719.3:c.362+14276G>T | XP_005251776.1:n.362+14276G>T | |
| XM_005251721.1:c.278+14276G>T | XP_005251778.1:n.278+14276G>T | |
| XM_011518264.1:c.341+14276G>T | XP_011516566.1:n.341+14276G>T | |
| XM_011518265.1:c.341+14276G>T | XP_011516567.1:n.341+14276G>T | |
| XM_011518266.1:c.341+14276G>T | XP_011516568.1:n.341+14276G>T | |
| XM_011518267.1:c.341+14276G>T | XP_011516569.1:n.341+14276G>T | |
| XM_011518268.1:c.341+14276G>T | XP_011516570.1:n.341+14276G>T | |
| XM_011518271.1:c.-11+14073G>T | XP_011516573.1:n.-11+14073G>T | |
| XM_005251719.4:c.362+14276G>T | XP_005251776.1:n.362+14276G>T | |
| XM_011518264.3:c.341+14276G>T | XP_011516566.1:n.341+14276G>T | |
| XM_011518265.3:c.341+14276G>T | XP_011516567.1:n.341+14276G>T | |
| XM_011518266.2:c.341+14276G>T | XP_011516568.1:n.341+14276G>T | |
| XM_011518267.2:c.341+14276G>T | XP_011516569.1:n.341+14276G>T | |
| XM_011518271.2:c.-11+14073G>T | XP_011516573.1:n.-11+14073G>T | |
| XM_017014299.1:c.218+12621G>T | XP_016869788.1:n.218+12621G>T | |
| XM_017014300.1:c.-11+14276G>T | XP_016869789.1:n.-11+14276G>T | |
| XM_024447418.1:c.170+14276G>T | XP_024303186.1:n.170+14276G>T | |
| NM_032552.4:c.278+14276G>T | NP_115941.2:n.278+14276G>T | |
| NM_001395010.1:c.362+14276G>T MANE Select | NP_001381939.1:n.362+14276G>T |