Linked Data
dbSNP Id:
rs756512749
ExAC:
8:94821255 C / T
gnomAD v2:
8-94821255-C-T
gnomAD v3:
8-93809027-C-T
gnomAD v4:
8-93809027-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93809027C>T , CM000670.2:g.93809027C>T | GRCh38 |
| NC_000008.10:g.94821255C>T , CM000670.1:g.94821255C>T | GRCh37 |
| NC_000008.9:g.94890431C>T | NCBI36 |
| NG_009190.1:g.59184C>T , LRG_688:g.59184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2557-30C>T | ENSP00000314488.4:n.2557-30C>T | |
| ENST00000409623.8:c.2512-30C>T | ENSP00000386966.4:n.2512-30C>T | |
| ENST00000452276.6:c.2440-30C>T | ENSP00000388671.2:n.2440-30C>T | |
| ENST00000453906.6:c.1675-30C>T | ENSP00000403035.2:n.1675-30C>T | |
| ENST00000518896.2:c.848-30C>T | ENSP00000507992.1:n.848-30C>T | |
| ENST00000520680.2:c.2680-30C>T | ENSP00000428785.2:n.2680-30C>T | |
| ENST00000521517.6:c.2458-30C>T | ENSP00000430740.2:n.2458-30C>T | |
| ENST00000681998.1:c.2378-30C>T | ENSP00000506773.1:n.2378-30C>T | |
| ENST00000682036.1:c.1798-30C>T | ENSP00000508390.1:n.1798-30C>T | |
| ENST00000682577.1:c.2330-30C>T | ENSP00000506963.1:n.2330-30C>T | |
| ENST00000682624.1:c.*2131-30C>T | ENSP00000508343.1:n.*2131-30C>T | |
| ENST00000682700.1:c.2557-30C>T | ENSP00000507627.1:n.2557-30C>T | |
| ENST00000682744.1:n.2095-30C>T | ||
| ENST00000682804.1:n.2380-30C>T | ||
| ENST00000682837.1:c.2046-30C>T | ENSP00000507920.1:n.2046-30C>T | |
| ENST00000682935.1:n.4607-30C>T | ||
| ENST00000682984.1:c.2218-30C>T | ENSP00000507209.1:n.2218-30C>T | |
| ENST00000683078.1:c.2312-30C>T | ENSP00000506796.1:n.2312-30C>T | |
| ENST00000683223.1:c.2289-30C>T | ENSP00000507685.1:n.2289-30C>T | |
| ENST00000683238.1:n.3781-30C>T | ||
| ENST00000683249.1:n.4154-30C>T | ||
| ENST00000683336.1:c.2378-30C>T | ENSP00000507695.1:n.2378-30C>T | |
| ENST00000683362.1:c.2218-30C>T | ENSP00000506985.1:n.2218-30C>T | |
| ENST00000683850.1:n.2480-30C>T | ||
| ENST00000683919.1:c.2487-30C>T | ENSP00000507617.1:n.2487-30C>T | |
| ENST00000683953.1:c.2468-30C>T | ENSP00000508375.1:n.2468-30C>T | |
| ENST00000684023.1:c.2534-30C>T | ENSP00000507461.1:n.2534-30C>T | |
| ENST00000684064.1:c.2248-30C>T | ENSP00000508192.1:n.2248-30C>T | |
| ENST00000684089.1:n.4107-30C>T | ||
| ENST00000684149.1:c.*1736-30C>T | ENSP00000507943.1:n.*1736-30C>T | |
| ENST00000684343.1:c.754-30C>T | ENSP00000507591.1:n.754-30C>T | |
| ENST00000684416.1:n.2516-30C>T | ||
| ENST00000684540.1:c.2487-30C>T | ENSP00000507987.1:n.2487-30C>T | |
| ENST00000453321.8:c.2557-30C>T MANE Select | ENSP00000389998.3:n.2557-30C>T | |
| ENST00000323130.7:c.2527-30C>T | ENSP00000314488.3:n.2527-30C>T | |
| ENST00000409623.7:c.2314-30C>T | ENSP00000386966.3:n.2314-30C>T | |
| ENST00000453321.7:c.2557-30C>T | ENSP00000389998.3:n.2557-30C>T | |
| ENST00000474944.5:n.1695-30C>T | ||
| ENST00000519845.5:n.1289-30C>T | ||
| NM_001142301.1:c.2314-30C>T , LRG_688t2:c.2314-30C>T | NP_001135773.1:n.2314-30C>T | |
| NM_153704.5:c.2557-30C>T , LRG_688t1:c.2557-30C>T | NP_714915.3:n.2557-30C>T | |
| NR_024522.1:n.2628-30C>T | ||
| XM_006716686.2:c.2254-30C>T | XP_006716749.1:n.2254-30C>T | |
| XM_006716687.2:c.1957-30C>T | XP_006716750.1:n.1957-30C>T | |
| XM_011517363.1:c.1675-30C>T | XP_011515665.1:n.1675-30C>T | |
| XR_428387.1:n.2615-30C>T | ||
| XR_928360.1:n.2615-30C>T | ||
| XR_928361.1:n.2615-30C>T | ||
| XR_928362.1:n.2615-30C>T | ||
| XM_006716686.4:c.2254-30C>T | XP_006716749.1:n.2254-30C>T | |
| XM_011517363.3:c.1675-30C>T | XP_011515665.1:n.1675-30C>T | |
| XM_024447326.1:c.1903-30C>T | XP_024303094.1:n.1903-30C>T | |
| XR_001745619.2:n.2598-30C>T | ||
| XR_428387.2:n.2598-30C>T | ||
| XR_928360.3:n.2598-30C>T | ||
| XR_928362.3:n.2598-30C>T | ||
| NM_153704.6:c.2557-30C>T MANE Select | NP_714915.3:n.2557-30C>T | |
| NR_024522.2:n.2578-30C>T |