Linked Data
dbSNP Id:
rs1961495
gnomAD v2:
13-110881373-C-T
gnomAD v3:
13-110229026-C-T
gnomAD v4:
13-110229026-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110229026C>T , CM000675.2:g.110229026C>T | GRCh38 |
| NC_000013.10:g.110881373C>T , CM000675.1:g.110881373C>T | GRCh37 |
| NC_000013.9:g.109679374C>T | NCBI36 |
| NG_011544.2:g.83124G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375820.10:c.144+13649G>A MANE Select | ENSP00000364979.4:n.144+13649G>A | |
| ENST00000543140.6:c.144+13649G>A | ENSP00000443348.1:n.144+13649G>A | |
| ENST00000615732.2:c.-49+13649G>A | ENSP00000478222.2:n.-49+13649G>A | |
| ENST00000647797.1:c.23+13649G>A | ||
| ENST00000648170.1:n.23+13649G>A | ||
| ENST00000648966.1:c.23+13649G>A | ||
| ENST00000649484.1:c.23+13649G>A | ||
| ENST00000649738.1:n.274+13649G>A | ||
| ENST00000375820.8:c.144+13649G>A | ENSP00000364979.4:n.144+13649G>A | |
| ENST00000543140.5:c.144+13649G>A | ENSP00000443348.1:n.144+13649G>A | |
| ENST00000615732.1:c.-49+13645G>A | ENSP00000478222.1:n.-49+13645G>A | |
| NM_001303110.1:c.144+13649G>A | NP_001290039.1:n.144+13649G>A | |
| NM_001845.5:c.144+13649G>A | NP_001836.3:n.144+13649G>A | |
| XM_011521048.1:c.-49+13649G>A | XP_011519350.1:n.-49+13649G>A | |
| XM_011521048.2:c.-49+13649G>A | XP_011519350.1:n.-49+13649G>A | |
| NM_001845.6:c.144+13649G>A MANE Select | NP_001836.3:n.144+13649G>A | |
| NM_001303110.2:c.144+13649G>A | NP_001290039.1:n.144+13649G>A |