Linked Data
dbSNP Id:
rs149
gnomAD v2:
7-25012699-G-A
gnomAD v3:
7-24973080-G-A
gnomAD v4:
7-24973080-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24973080G>A , CM000669.2:g.24973080G>A | GRCh38 |
| NC_000007.13:g.25012699G>A , CM000669.1:g.25012699G>A | GRCh37 |
| NC_000007.12:g.24979224G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313367.7:c.-150+6806C>T MANE Select | ENSP00000315410.2:n.-150+6806C>T | |
| ENST00000313367.6:c.-150+6806C>T | ENSP00000315410.2:n.-150+6806C>T | |
| ENST00000415952.1:c.-150+8319C>T | ENSP00000411249.1:n.-150+8319C>T | |
| NM_015550.3:c.-150+6806C>T | NP_056365.1:n.-150+6806C>T | |
| XM_006715681.2:c.-150+6806C>T | XP_006715744.1:n.-150+6806C>T | |
| XM_006715682.2:c.-150+6806C>T | XP_006715745.1:n.-150+6806C>T | |
| XM_006715683.2:c.-150+6806C>T | XP_006715746.1:n.-150+6806C>T | |
| XM_011515259.1:c.-629+6806C>T | XP_011513561.1:n.-629+6806C>T | |
| XR_428073.2:n.314+6806C>T | ||
| XR_428074.2:n.299+6806C>T | ||
| XR_428075.2:n.299+6806C>T | ||
| XR_926927.1:n.314+6806C>T | ||
| XR_926928.1:n.314+6806C>T | ||
| XR_926929.1:n.314+6806C>T | ||
| XM_006715681.3:c.-150+6806C>T | XP_006715744.1:n.-150+6806C>T | |
| XM_006715682.3:c.-150+6806C>T | XP_006715745.1:n.-150+6806C>T | |
| XM_006715683.3:c.-150+6806C>T | XP_006715746.1:n.-150+6806C>T | |
| XM_006715684.4:c.-1193+6806C>T | XP_006715747.1:n.-1193+6806C>T | |
| XM_011515259.2:c.-629+6806C>T | XP_011513561.1:n.-629+6806C>T | |
| XM_017011948.1:c.-492+6806C>T | XP_016867437.1:n.-492+6806C>T | |
| XM_017011949.1:c.-629+6806C>T | XP_016867438.1:n.-629+6806C>T | |
| XR_001744620.1:n.333+6806C>T | ||
| XR_428073.3:n.333+6806C>T | ||
| XR_428074.3:n.333+6806C>T | ||
| XR_428075.3:n.333+6806C>T | ||
| XR_926927.2:n.314+6806C>T | ||
| NM_015550.4:c.-150+6806C>T MANE Select | NP_056365.1:n.-150+6806C>T |