Linked Data
dbSNP Id:
rs4748153
gnomAD v2:
10-6606541-C-T
gnomAD v3:
10-6564579-C-T
gnomAD v4:
10-6564579-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6564579C>T , CM000672.2:g.6564579C>T | GRCh38 |
| NC_000010.10:g.6606541C>T , CM000672.1:g.6606541C>T | GRCh37 |
| NC_000010.9:g.6646547C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263125.10:c.-10+15632G>A MANE Select | ENSP00000263125.5:n.-10+15632G>A | |
| ENST00000263125.9:c.-10+15632G>A | ENSP00000263125.5:n.-10+15632G>A | |
| ENST00000397176.6:c.-10+15632G>A | ENSP00000380361.2:n.-10+15632G>A | |
| ENST00000539722.5:c.-324+15632G>A | ENSP00000441752.1:n.-324+15632G>A | |
| NM_001242413.2:c.-10+15632G>A | NP_001229342.1:n.-10+15632G>A | |
| NM_001282644.1:c.-116+15632G>A | NP_001269573.1:n.-116+15632G>A | |
| NM_001282645.1:c.-324+15632G>A | NP_001269574.1:n.-324+15632G>A | |
| NM_006257.4:c.-10+15632G>A | NP_006248.1:n.-10+15632G>A | |
| XM_011519547.1:c.-10+15922G>A | XP_011517849.1:n.-10+15922G>A | |
| NM_001323265.1:c.-10+15922G>A | NP_001310194.1:n.-10+15922G>A | |
| NM_001323266.1:c.-322+15632G>A | NP_001310195.1:n.-322+15632G>A | |
| NM_001323267.1:c.-116+15632G>A | NP_001310196.1:n.-116+15632G>A | |
| NM_001282644.2:c.-116+15632G>A | NP_001269573.1:n.-116+15632G>A | |
| NM_001323266.2:c.-322+15632G>A | NP_001310195.1:n.-322+15632G>A | |
| NM_006257.5:c.-10+15632G>A MANE Select | NP_006248.1:n.-10+15632G>A | |
| NM_001323267.2:c.-116+15632G>A | NP_001310196.1:n.-116+15632G>A |