Linked Data
dbSNP Id:
rs12196860
gnomAD v2:
6-55950374-G-A
gnomAD v3:
6-56085576-G-A
gnomAD v4:
6-56085576-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56085576G>A , CM000668.2:g.56085576G>A | GRCh38 |
| NC_000006.11:g.55950374G>A , CM000668.1:g.55950374G>A | GRCh37 |
| NC_000006.10:g.56058333G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244728.10:c.1813-8003C>T MANE Select | ENSP00000244728.5:n.1813-8003C>T | |
| ENST00000244728.9:c.1813-8003C>T | ENSP00000244728.5:n.1813-8003C>T | |
| ENST00000370819.5:c.1804-8003C>T | ENSP00000359855.1:n.1804-8003C>T | |
| ENST00000467045.5:n.165+5921C>T | ||
| ENST00000488912.5:c.205-7388C>T | ENSP00000433624.1:n.205-7388C>T | |
| ENST00000535941.5:c.1810-8003C>T | ENSP00000444384.2:n.1810-8003C>T | |
| NM_030820.3:c.1813-8003C>T | NP_110447.2:n.1813-8003C>T | |
| XM_006715223.1:c.1813-8003C>T | XP_006715286.1:n.1813-8003C>T | |
| XM_006715225.2:c.382-8003C>T | XP_006715288.1:n.382-8003C>T | |
| XM_011514923.1:c.1813-8003C>T | XP_011513225.1:n.1813-8003C>T | |
| XM_011514924.1:c.1813-8003C>T | XP_011513226.1:n.1813-8003C>T | |
| XM_011514925.1:c.1813-8003C>T | XP_011513227.1:n.1813-8003C>T | |
| XM_011514926.1:c.1813-8003C>T | XP_011513228.1:n.1813-8003C>T | |
| XM_011514927.1:c.1813-8003C>T | XP_011513229.1:n.1813-8003C>T | |
| XR_241922.1:n.2236-8003C>T | ||
| XR_926314.1:n.2228-8003C>T | ||
| NM_001318751.1:c.1813-8003C>T | NP_001305680.1:n.1813-8003C>T | |
| NM_001318752.1:c.1804-8003C>T | NP_001305681.1:n.1804-8003C>T | |
| NM_001318753.1:c.6+5921C>T | NP_001305682.1:n.6+5921C>T | |
| NM_001318754.1:c.-116+5921C>T | NP_001305683.1:n.-116+5921C>T | |
| NR_134849.1:n.2037-8003C>T | ||
| NR_134850.1:n.2062-8003C>T | ||
| NR_134851.1:n.2070-8003C>T | ||
| XM_006715223.2:c.1813-8003C>T | XP_006715286.1:n.1813-8003C>T | |
| XM_011514924.2:c.1813-8003C>T | XP_011513226.1:n.1813-8003C>T | |
| XM_011514925.3:c.1813-8003C>T | XP_011513227.1:n.1813-8003C>T | |
| XM_024446561.1:c.382-8003C>T | XP_024302329.1:n.382-8003C>T | |
| XR_001743657.2:n.2070-8003C>T | ||
| NM_030820.4:c.1813-8003C>T MANE Select | NP_110447.2:n.1813-8003C>T | |
| NM_001318751.2:c.1813-8003C>T | NP_001305680.1:n.1813-8003C>T | |
| NM_001318752.2:c.1804-8003C>T | NP_001305681.1:n.1804-8003C>T | |
| NM_001318753.2:c.6+5921C>T | NP_001305682.1:n.6+5921C>T | |
| NM_001318754.2:c.-116+5921C>T | NP_001305683.1:n.-116+5921C>T | |
| NR_134849.2:n.2037-8003C>T | ||
| NR_134850.2:n.2062-8003C>T | ||
| NR_134851.2:n.2070-8003C>T |