Linked Data
dbSNP Id:
rs1411040
gnomAD v2:
13-110943921-C-T
gnomAD v3:
13-110291574-C-T
gnomAD v4:
13-110291574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110291574C>T , CM000675.2:g.110291574C>T | GRCh38 |
| NC_000013.10:g.110943921C>T , CM000675.1:g.110943921C>T | GRCh37 |
| NC_000013.9:g.109741922C>T | NCBI36 |
| NG_011544.2:g.20576G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375820.10:c.84+15370G>A MANE Select | ENSP00000364979.4:n.84+15370G>A | |
| ENST00000543140.6:c.84+15370G>A | ENSP00000443348.1:n.84+15370G>A | |
| ENST00000615732.2:c.-109+7031G>A | ENSP00000478222.2:n.-109+7031G>A | |
| ENST00000649738.1:n.214+15370G>A | ||
| ENST00000375820.8:c.84+15370G>A | ENSP00000364979.4:n.84+15370G>A | |
| ENST00000543140.5:c.84+15370G>A | ENSP00000443348.1:n.84+15370G>A | |
| ENST00000615732.1:c.-113+7031G>A | ENSP00000478222.1:n.-113+7031G>A | |
| NM_001303110.1:c.84+15370G>A | NP_001290039.1:n.84+15370G>A | |
| NM_001845.5:c.84+15370G>A | NP_001836.3:n.84+15370G>A | |
| XM_011521048.1:c.-109+7031G>A | XP_011519350.1:n.-109+7031G>A | |
| XM_011521048.2:c.-109+7031G>A | XP_011519350.1:n.-109+7031G>A | |
| NM_001845.6:c.84+15370G>A MANE Select | NP_001836.3:n.84+15370G>A | |
| NM_001303110.2:c.84+15370G>A | NP_001290039.1:n.84+15370G>A |