Linked Data
dbSNP Id:
rs888099211
gnomAD v3:
9-135750245-C-T
gnomAD v4:
9-135750245-C-T
COSMIC:
COSN20561661
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135750245C>T , CM000671.2:g.135750245C>T | GRCh38 |
| NC_000009.11:g.138642091C>T , CM000671.1:g.138642091C>T | GRCh37 |
| NC_000009.10:g.137781912C>T | NCBI36 |
| NG_033070.1:g.53061C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.334+68C>T MANE Select | ENSP00000360822.2:n.334+68C>T | |
| ENST00000638123.1:n.69+68C>T | ||
| ENST00000674572.1:c.175+68C>T | ENSP00000501742.1:n.175+68C>T | |
| ENST00000675090.1:c.82+68C>T | ENSP00000501833.1:n.82+68C>T | |
| ENST00000675399.1:c.82+68C>T | ENSP00000501932.1:n.82+68C>T | |
| ENST00000676421.1:c.82+68C>T | ENSP00000502322.1:n.82+68C>T | |
| ENST00000263604.5:c.235+68C>T | ENSP00000263604.4:n.235+68C>T | |
| ENST00000371757.6:c.334+68C>T | ENSP00000360822.2:n.334+68C>T | |
| ENST00000460750.5:c.334+68C>T | ENSP00000418777.1:n.334+68C>T | |
| ENST00000473941.5:c.175+68C>T | ENSP00000420764.1:n.175+68C>T | |
| ENST00000486577.6:c.217+68C>T | ENSP00000417578.3:n.217+68C>T | |
| ENST00000487664.5:c.334+68C>T | ENSP00000417851.2:n.334+68C>T | |
| ENST00000488444.6:c.277+68C>T | ENSP00000419007.3:n.277+68C>T | |
| ENST00000490355.6:c.277+68C>T | ENSP00000418003.3:n.277+68C>T | |
| ENST00000491806.6:c.277+68C>T | ENSP00000419086.3:n.277+68C>T | |
| ENST00000628528.2:c.190+68C>T | ENSP00000486374.1:n.190+68C>T | |
| ENST00000630792.2:c.175+68C>T | ENSP00000486486.1:n.175+68C>T | |
| ENST00000631073.2:c.277+68C>T | ENSP00000486130.1:n.277+68C>T | |
| NM_001272003.1:c.190+68C>T | NP_001258932.1:n.190+68C>T | |
| NM_020822.2:c.334+68C>T | NP_065873.2:n.334+68C>T | |
| XM_011518877.1:c.469+68C>T | XP_011517179.1:n.469+68C>T | |
| XM_011518878.1:c.469+68C>T | XP_011517180.1:n.469+68C>T | |
| XM_011518879.1:c.469+68C>T | XP_011517181.1:n.469+68C>T | |
| XM_011518880.1:c.235+68C>T | XP_011517182.1:n.235+68C>T | |
| XM_011518877.3:c.469+68C>T | XP_011517179.1:n.469+68C>T | |
| XM_011518878.3:c.469+68C>T | XP_011517180.1:n.469+68C>T | |
| XM_011518879.3:c.469+68C>T | XP_011517181.1:n.469+68C>T | |
| XM_017014931.1:c.359+68C>T | XP_016870420.1:n.359+68C>T | |
| XM_017014932.1:c.82+68C>T | XP_016870421.1:n.82+68C>T | |
| XM_017014933.1:c.-86+68C>T | XP_016870422.1:n.-86+68C>T | |
| XM_024447617.1:c.-186+68C>T | XP_024303385.1:n.-186+68C>T | |
| XM_024447618.1:c.-186+68C>T | XP_024303386.1:n.-186+68C>T | |
| NM_020822.3:c.334+68C>T MANE Select | NP_065873.2:n.334+68C>T | |
| NM_001272003.2:c.190+68C>T | NP_001258932.1:n.190+68C>T |