Linked Data
dbSNP Id:
rs751261426
ExAC:
9:138667122 C / CT
gnomAD v2:
9-138667122-C-CT
gnomAD v3:
9-135775276-C-CT
gnomAD v4:
9-135775276-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135775276_135775277insT , CM000671.2:g.135775276_135775277insT | GRCh38 |
| NC_000009.11:g.138667122_138667123insT , CM000671.1:g.138667122_138667123insT | GRCh37 |
| NC_000009.10:g.137806943_137806944insT | NCBI36 |
| NG_033070.1:g.78092_78093insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.2244-34_2244-33insT MANE Select | ENSP00000360822.2:n.2244-34_2244-33insT | |
| ENST00000674572.1:c.2085-34_2085-33insT | ENSP00000501742.1:n.2085-34_2085-33insT | |
| ENST00000675090.1:c.1992-34_1992-33insT | ENSP00000501833.1:n.1992-34_1992-33insT | |
| ENST00000675399.1:c.1992-34_1992-33insT | ENSP00000501932.1:n.1992-34_1992-33insT | |
| ENST00000676421.1:c.2001-34_2001-33insT | ENSP00000502322.1:n.2001-34_2001-33insT | |
| ENST00000263604.5:c.2145-34_2145-33insT | ENSP00000263604.4:n.2145-34_2145-33insT | |
| ENST00000371757.6:c.2244-34_2244-33insT | ENSP00000360822.2:n.2244-34_2244-33insT | |
| ENST00000460750.5:c.*1854-34_*1854-33insT | ENSP00000418777.1:n.*1854-34_*1854-33insT | |
| ENST00000486577.6:c.2127-34_2127-33insT | ENSP00000417578.3:n.2127-34_2127-33insT | |
| ENST00000487664.5:c.2244-34_2244-33insT | ENSP00000417851.2:n.2244-34_2244-33insT | |
| ENST00000488444.6:c.2187-34_2187-33insT | ENSP00000419007.3:n.2187-34_2187-33insT | |
| ENST00000490355.6:c.2181-34_2181-33insT | ENSP00000418003.3:n.2181-34_2181-33insT | |
| ENST00000490363.3:n.2063-34_2063-33insT | ||
| ENST00000491806.6:c.2187-34_2187-33insT | ENSP00000419086.3:n.2187-34_2187-33insT | |
| ENST00000628528.2:c.2109-34_2109-33insT | ENSP00000486374.1:n.2109-34_2109-33insT | |
| ENST00000630792.2:c.2079-34_2079-33insT | ENSP00000486486.1:n.2079-34_2079-33insT | |
| ENST00000631073.2:c.2187-34_2187-33insT | ENSP00000486130.1:n.2187-34_2187-33insT | |
| ENST00000631193.1:c.93-34_93-33insT | ENSP00000486830.1:n.93-34_93-33insT | |
| NM_001272003.1:c.2109-34_2109-33insT | NP_001258932.1:n.2109-34_2109-33insT | |
| NM_020822.2:c.2244-34_2244-33insT | NP_065873.2:n.2244-34_2244-33insT | |
| XM_011518877.1:c.2379-34_2379-33insT | XP_011517179.1:n.2379-34_2379-33insT | |
| XM_011518878.1:c.2388-34_2388-33insT | XP_011517180.1:n.2388-34_2388-33insT | |
| XM_011518879.1:c.2379-34_2379-33insT | XP_011517181.1:n.2379-34_2379-33insT | |
| XM_011518880.1:c.2145-34_2145-33insT | XP_011517182.1:n.2145-34_2145-33insT | |
| XM_011518881.1:c.1734-34_1734-33insT | XP_011517183.1:n.1734-34_1734-33insT | |
| XM_011518877.3:c.2379-34_2379-33insT | XP_011517179.1:n.2379-34_2379-33insT | |
| XM_011518878.3:c.2388-34_2388-33insT | XP_011517180.1:n.2388-34_2388-33insT | |
| XM_011518879.3:c.2379-34_2379-33insT | XP_011517181.1:n.2379-34_2379-33insT | |
| XM_011518881.3:c.1734-34_1734-33insT | XP_011517183.1:n.1734-34_1734-33insT | |
| XM_017014931.1:c.2178-34_2178-33insT | XP_016870420.1:n.2178-34_2178-33insT | |
| XM_017014932.1:c.2001-34_2001-33insT | XP_016870421.1:n.2001-34_2001-33insT | |
| XM_017014933.1:c.1734-34_1734-33insT | XP_016870422.1:n.1734-34_1734-33insT | |
| XM_024447617.1:c.1734-34_1734-33insT | XP_024303385.1:n.1734-34_1734-33insT | |
| XM_024447618.1:c.1734-34_1734-33insT | XP_024303386.1:n.1734-34_1734-33insT | |
| NM_020822.3:c.2244-34_2244-33insT MANE Select | NP_065873.2:n.2244-34_2244-33insT | |
| NM_001272003.2:c.2109-34_2109-33insT | NP_001258932.1:n.2109-34_2109-33insT |