Linked Data
dbSNP Id:
rs11622887
gnomAD v2:
14-95942447-A-C
gnomAD v3:
14-95476110-A-C
gnomAD v4:
14-95476110-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95476110A>C , CM000676.2:g.95476110A>C | GRCh38 |
| NC_000014.8:g.95942447A>C , CM000676.1:g.95942447A>C | GRCh37 |
| NC_000014.7:g.95012200A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682763.1:c.-14-275T>G MANE Select | ENSP00000507501.1:n.-14-275T>G | |
| XM_005267376.3:c.176-275T>G | XP_005267433.2:n.176-275T>G | |
| XM_005267377.2:c.-14-275T>G | XP_005267434.1:n.-14-275T>G | |
| XM_006720063.2:c.-14-275T>G | XP_006720126.1:n.-14-275T>G | |
| XM_011536513.1:c.176-275T>G | XP_011534815.1:n.176-275T>G | |
| XM_011536514.1:c.176-275T>G | XP_011534816.1:n.176-275T>G | |
| XM_011536515.1:c.11-275T>G | XP_011534817.1:n.11-275T>G | |
| XM_011536516.1:c.176-275T>G | XP_011534818.1:n.176-275T>G | |
| XM_005267377.4:c.-14-275T>G | XP_005267434.1:n.-14-275T>G | |
| XM_006720063.4:c.-14-275T>G | XP_006720126.1:n.-14-275T>G | |
| XM_011536515.3:c.11-275T>G | XP_011534817.1:n.11-275T>G | |
| XM_017021057.1:c.-14-275T>G | XP_016876546.1:n.-14-275T>G | |
| NM_001363692.2:c.-14-275T>G | NP_001350621.1:n.-14-275T>G | |
| NM_001384281.1:c.-14-275T>G | NP_001371210.1:n.-14-275T>G | |
| NM_001384282.1:c.-14-275T>G | NP_001371211.1:n.-14-275T>G | |
| NM_001384283.1:c.11-275T>G | NP_001371212.1:n.11-275T>G | |
| NM_001384284.1:c.-14-275T>G | NP_001371213.1:n.-14-275T>G | |
| NM_152592.6:c.-14-275T>G MANE Select | NP_689805.3:n.-14-275T>G |