Linked Data
dbSNP Id:
rs1296604786
gnomAD v2:
9-138667007-G-A
gnomAD v3:
9-135775161-G-A
gnomAD v4:
9-135775161-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135775161G>A , CM000671.2:g.135775161G>A | GRCh38 |
| NC_000009.11:g.138667007G>A , CM000671.1:g.138667007G>A | GRCh37 |
| NC_000009.10:g.137806828G>A | NCBI36 |
| NG_033070.1:g.77977G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.2244-149G>A MANE Select | ENSP00000360822.2:n.2244-149G>A | |
| ENST00000674572.1:c.2085-149G>A | ENSP00000501742.1:n.2085-149G>A | |
| ENST00000675090.1:c.1992-149G>A | ENSP00000501833.1:n.1992-149G>A | |
| ENST00000675399.1:c.1992-149G>A | ENSP00000501932.1:n.1992-149G>A | |
| ENST00000676421.1:c.2001-149G>A | ENSP00000502322.1:n.2001-149G>A | |
| ENST00000263604.5:c.2145-149G>A | ENSP00000263604.4:n.2145-149G>A | |
| ENST00000371757.6:c.2244-149G>A | ENSP00000360822.2:n.2244-149G>A | |
| ENST00000460750.5:c.*1854-149G>A | ENSP00000418777.1:n.*1854-149G>A | |
| ENST00000486577.6:c.2127-149G>A | ENSP00000417578.3:n.2127-149G>A | |
| ENST00000487664.5:c.2244-149G>A | ENSP00000417851.2:n.2244-149G>A | |
| ENST00000488444.6:c.2187-149G>A | ENSP00000419007.3:n.2187-149G>A | |
| ENST00000490355.6:c.2181-149G>A | ENSP00000418003.3:n.2181-149G>A | |
| ENST00000490363.3:n.2063-149G>A | ||
| ENST00000491806.6:c.2187-149G>A | ENSP00000419086.3:n.2187-149G>A | |
| ENST00000628528.2:c.2109-149G>A | ENSP00000486374.1:n.2109-149G>A | |
| ENST00000630792.2:c.2079-149G>A | ENSP00000486486.1:n.2079-149G>A | |
| ENST00000631073.2:c.2187-149G>A | ENSP00000486130.1:n.2187-149G>A | |
| ENST00000631193.1:c.93-149G>A | ENSP00000486830.1:n.93-149G>A | |
| NM_001272003.1:c.2109-149G>A | NP_001258932.1:n.2109-149G>A | |
| NM_020822.2:c.2244-149G>A | NP_065873.2:n.2244-149G>A | |
| XM_011518877.1:c.2379-149G>A | XP_011517179.1:n.2379-149G>A | |
| XM_011518878.1:c.2388-149G>A | XP_011517180.1:n.2388-149G>A | |
| XM_011518879.1:c.2379-149G>A | XP_011517181.1:n.2379-149G>A | |
| XM_011518880.1:c.2145-149G>A | XP_011517182.1:n.2145-149G>A | |
| XM_011518881.1:c.1734-149G>A | XP_011517183.1:n.1734-149G>A | |
| XM_011518877.3:c.2379-149G>A | XP_011517179.1:n.2379-149G>A | |
| XM_011518878.3:c.2388-149G>A | XP_011517180.1:n.2388-149G>A | |
| XM_011518879.3:c.2379-149G>A | XP_011517181.1:n.2379-149G>A | |
| XM_011518881.3:c.1734-149G>A | XP_011517183.1:n.1734-149G>A | |
| XM_017014931.1:c.2178-149G>A | XP_016870420.1:n.2178-149G>A | |
| XM_017014932.1:c.2001-149G>A | XP_016870421.1:n.2001-149G>A | |
| XM_017014933.1:c.1734-149G>A | XP_016870422.1:n.1734-149G>A | |
| XM_024447617.1:c.1734-149G>A | XP_024303385.1:n.1734-149G>A | |
| XM_024447618.1:c.1734-149G>A | XP_024303386.1:n.1734-149G>A | |
| NM_020822.3:c.2244-149G>A MANE Select | NP_065873.2:n.2244-149G>A | |
| NM_001272003.2:c.2109-149G>A | NP_001258932.1:n.2109-149G>A |