Linked Data
dbSNP Id:
rs1487967661
gnomAD v2:
11-121371057-C-T
gnomAD v3:
11-121500348-C-T
gnomAD v4:
11-121500348-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121500348C>T , CM000673.2:g.121500348C>T | GRCh38 |
| NC_000011.9:g.121371057C>T , CM000673.1:g.121371057C>T | GRCh37 |
| NC_000011.8:g.120876267C>T | NCBI36 |
| NG_023313.1:g.53097C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.939+3299C>T MANE Select | ENSP00000260197.6:n.939+3299C>T | |
| ENST00000260197.11:c.939+3299C>T | ENSP00000260197.6:n.939+3299C>T | |
| ENST00000532451.1:n.891+3299C>T | ||
| NM_003105.5:c.939+3299C>T | NP_003096.1:n.939+3299C>T | |
| XM_011542963.1:c.939+3299C>T | XP_011541265.1:n.939+3299C>T | |
| XM_011542964.1:c.939+3299C>T | XP_011541266.1:n.939+3299C>T | |
| XM_011542963.3:c.939+3299C>T | XP_011541265.1:n.939+3299C>T | |
| XM_011542965.3:c.-684+3299C>T | XP_011541267.1:n.-684+3299C>T | |
| XM_017018169.2:c.627+3299C>T | XP_016873658.1:n.627+3299C>T | |
| XM_017018170.2:c.414+3299C>T | XP_016873659.1:n.414+3299C>T | |
| XM_017018171.1:c.939+3299C>T | XP_016873660.1:n.939+3299C>T | |
| NM_003105.6:c.939+3299C>T MANE Select | NP_003096.2:n.939+3299C>T |