Linked Data
dbSNP Id:
rs949187257
gnomAD v2:
4-55599465-A-T
gnomAD v3:
4-54733299-A-T
gnomAD v4:
4-54733299-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54733299A>T , CM000666.2:g.54733299A>T | GRCh38 |
| NC_000004.11:g.55599465A>T , CM000666.1:g.55599465A>T | GRCh37 |
| NC_000004.10:g.55294222A>T | NCBI36 |
| NG_007456.1:g.80305A>T , LRG_307:g.80305A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.2472+107A>T | ENSP00000390987.3:n.2472+107A>T | |
| ENST00000685269.1:n.2562+107A>T | ||
| ENST00000686011.1:c.2469+107A>T | ENSP00000509704.1:n.2469+107A>T | |
| ENST00000687109.1:c.2487+107A>T | ENSP00000509371.1:n.2487+107A>T | |
| ENST00000687208.1:n.2896+107A>T | ||
| ENST00000687246.1:c.2349+1301A>T | ENSP00000509114.1:n.2349+1301A>T | |
| ENST00000687265.1:n.2642+107A>T | ||
| ENST00000687295.1:c.2472+107A>T | ENSP00000509450.1:n.2472+107A>T | |
| ENST00000688060.1:n.281+107A>T | ||
| ENST00000688704.1:n.1603A>T | ||
| ENST00000689832.1:c.2484+107A>T | ENSP00000509084.1:n.2484+107A>T | |
| ENST00000689994.1:c.1974+107A>T | ENSP00000509156.1:n.1974+107A>T | |
| ENST00000690543.1:c.2475+107A>T | ENSP00000508831.1:n.2475+107A>T | |
| ENST00000690917.1:n.2702+107A>T | ||
| ENST00000691361.1:n.1394+107A>T | ||
| ENST00000692783.1:c.2481+107A>T | ENSP00000508733.1:n.2481+107A>T | |
| ENST00000692991.1:n.2581+107A>T | ||
| ENST00000288135.6:c.2484+107A>T MANE Select | ENSP00000288135.6:n.2484+107A>T | |
| ENST00000288135.5:c.2484+107A>T | ENSP00000288135.5:n.2484+107A>T | |
| ENST00000412167.6:c.2472+107A>T | ENSP00000390987.2:n.2472+107A>T | |
| ENST00000512959.1:n.644A>T | ||
| NM_000222.2:c.2484+107A>T , LRG_307t1:c.2484+107A>T | NP_000213.1:n.2484+107A>T | |
| NM_001093772.1:c.2472+107A>T | NP_001087241.1:n.2472+107A>T | |
| XM_005265740.1:c.2487+107A>T | XP_005265797.1:n.2487+107A>T | |
| XM_005265741.1:c.2484+107A>T | XP_005265798.1:n.2484+107A>T | |
| XM_005265742.1:c.2475+107A>T | XP_005265799.1:n.2475+107A>T | |
| XM_005265742.3:c.2475+107A>T | XP_005265799.1:n.2475+107A>T | |
| XM_017008178.1:c.2481+107A>T | XP_016863667.1:n.2481+107A>T | |
| XM_017008179.1:c.2472+107A>T | XP_016863668.1:n.2472+107A>T | |
| XM_017008180.1:c.2469+107A>T | XP_016863669.1:n.2469+107A>T | |
| NM_000222.3:c.2484+107A>T MANE Select | NP_000213.1:n.2484+107A>T | |
| NM_001093772.2:c.2472+107A>T | NP_001087241.1:n.2472+107A>T | |
| NM_001385284.1:c.2487+107A>T | NP_001372213.1:n.2487+107A>T | |
| NM_001385285.1:c.2481+107A>T | NP_001372214.1:n.2481+107A>T | |
| NM_001385286.1:c.2469+107A>T | NP_001372215.1:n.2469+107A>T | |
| NM_001385288.1:c.2475+107A>T | NP_001372217.1:n.2475+107A>T | |
| NM_001385290.1:c.2484+107A>T | NP_001372219.1:n.2484+107A>T | |
| NM_001385292.1:c.2472+107A>T | NP_001372221.1:n.2472+107A>T |