Linked Data
dbSNP Id:
rs7112365
gnomAD v2:
11-125277494-C-T
gnomAD v3:
11-125407598-C-T
gnomAD v4:
11-125407598-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125407598C>T , CM000673.2:g.125407598C>T | GRCh38 |
| NC_000011.9:g.125277494C>T , CM000673.1:g.125277494C>T | GRCh37 |
| NC_000011.8:g.124782704C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298282.14:c.589-2598C>T MANE Select | ENSP00000298282.8:n.589-2598C>T | |
| ENST00000298282.13:c.589-2598C>T | ENSP00000298282.8:n.589-2598C>T | |
| ENST00000526955.1:n.225-2441C>T | ||
| ENST00000530517.5:n.770-2598C>T | ||
| ENST00000531116.5:n.691-2598C>T | ||
| ENST00000532623.5:c.*326-2598C>T | ENSP00000434377.1:n.*326-2598C>T | |
| NM_022062.2:c.589-2598C>T | NP_071345.2:n.589-2598C>T | |
| XM_005271642.1:c.589-2598C>T | XP_005271699.1:n.589-2598C>T | |
| XM_005271643.1:c.502-2598C>T | XP_005271700.1:n.502-2598C>T | |
| XM_006718894.1:c.190-2598C>T | XP_006718957.1:n.190-2598C>T | |
| XM_011542944.1:c.589-2598C>T | XP_011541246.1:n.589-2598C>T | |
| XM_011542945.1:c.589-2598C>T | XP_011541247.1:n.589-2598C>T | |
| XM_011542946.1:c.588+9536C>T | XP_011541248.1:n.588+9536C>T | |
| XM_011542947.1:c.190-2598C>T | XP_011541249.1:n.190-2598C>T | |
| XR_948136.1:n.2418+174G>A | ||
| XM_005271642.2:c.589-2598C>T | XP_005271699.1:n.589-2598C>T | |
| XM_006718894.2:c.190-2598C>T | XP_006718957.1:n.190-2598C>T | |
| XM_011542945.2:c.589-2598C>T | XP_011541247.1:n.589-2598C>T | |
| XM_011542947.2:c.190-2598C>T | XP_011541249.1:n.190-2598C>T | |
| XM_017018110.1:c.589-2598C>T | XP_016873599.1:n.589-2598C>T | |
| XM_017018111.1:c.190-2598C>T | XP_016873600.1:n.190-2598C>T | |
| XM_024448643.1:c.589-2598C>T | XP_024304411.1:n.589-2598C>T | |
| XM_024448644.1:c.589-2598C>T | XP_024304412.1:n.589-2598C>T | |
| XM_024448645.1:c.589-2598C>T | XP_024304413.1:n.589-2598C>T | |
| XM_024448646.1:c.589-2598C>T | XP_024304414.1:n.589-2598C>T | |
| XM_024448647.1:c.589-2598C>T | XP_024304415.1:n.589-2598C>T | |
| XM_024448648.1:c.502-2598C>T | XP_024304416.1:n.502-2598C>T | |
| XM_024448649.1:c.502-2598C>T | XP_024304417.1:n.502-2598C>T | |
| XM_024448650.1:c.501+9536C>T | XP_024304418.1:n.501+9536C>T | |
| XM_024448651.1:c.501+9536C>T | XP_024304419.1:n.501+9536C>T | |
| NM_022062.3:c.589-2598C>T | NP_071345.2:n.589-2598C>T | |
| NM_001382323.2:c.589-2598C>T MANE Select | NP_001369252.1:n.589-2598C>T | |
| NM_001382324.1:c.589-2598C>T | NP_001369253.1:n.589-2598C>T | |
| NM_001382325.1:c.589-2598C>T | NP_001369254.1:n.589-2598C>T | |
| NM_001382326.1:c.589-2598C>T | NP_001369255.1:n.589-2598C>T | |
| NM_001382327.1:c.589-2598C>T | NP_001369256.1:n.589-2598C>T | |
| NM_001382328.1:c.589-2598C>T | NP_001369257.1:n.589-2598C>T | |
| NM_001382329.1:c.502-2598C>T | NP_001369258.1:n.502-2598C>T | |
| NM_001382330.1:c.502-2598C>T | NP_001369259.1:n.502-2598C>T | |
| NM_001382331.1:c.502-2598C>T | NP_001369260.1:n.502-2598C>T | |
| NM_001382332.1:c.502-2598C>T | NP_001369261.1:n.502-2598C>T | |
| NM_001382333.1:c.502-2598C>T | NP_001369262.1:n.502-2598C>T | |
| NM_001382334.1:c.588+9536C>T | NP_001369263.1:n.588+9536C>T | |
| NM_001382335.1:c.588+9536C>T | NP_001369264.1:n.588+9536C>T | |
| NM_001382336.1:c.501+9536C>T | NP_001369265.1:n.501+9536C>T | |
| NM_001382337.1:c.501+9536C>T | NP_001369266.1:n.501+9536C>T | |
| NM_001382338.1:c.501+9536C>T | NP_001369267.1:n.501+9536C>T | |
| NM_001382339.1:c.589-2610C>T | NP_001369268.1:n.589-2610C>T | |
| NM_001382340.1:c.397-2598C>T | NP_001369269.1:n.397-2598C>T | |
| NM_001382341.1:c.589-4148C>T | NP_001369270.1:n.589-4148C>T | |
| NR_168076.1:n.534-2598C>T | ||
| NR_168077.1:n.464+9536C>T | ||
| NR_168078.1:n.815-2598C>T | ||
| NR_168079.1:n.643-2598C>T | ||
| NR_168080.1:n.817-2598C>T | ||
| NR_168081.1:n.866-2598C>T | ||
| NR_168082.1:n.1010-2598C>T | ||
| NR_168083.1:n.643-2598C>T | ||
| NR_168084.1:n.572-2598C>T |