Linked Data
dbSNP Id:
rs2068399
gnomAD v2:
7-14228703-G-A
gnomAD v3:
7-14189078-G-A
gnomAD v4:
7-14189078-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.14189078G>A , CM000669.2:g.14189078G>A | GRCh38 |
| NC_000007.13:g.14228703G>A , CM000669.1:g.14228703G>A | GRCh37 |
| NC_000007.12:g.14195228G>A | NCBI36 |
| NG_029494.1:g.657373C>T | |
| NG_029494.2:g.790700C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402815.6:c.2123-10927C>T MANE Select | ENSP00000384909.1:n.2123-10927C>T | |
| ENST00000399322.7:c.2126-10927C>T | ENSP00000382260.3:n.2126-10927C>T | |
| ENST00000402815.5:c.2123-10927C>T | ENSP00000384909.1:n.2123-10927C>T | |
| ENST00000403951.6:c.2126-10927C>T | ENSP00000385780.2:n.2126-10927C>T | |
| ENST00000406247.7:c.2126-10927C>T | ENSP00000386066.3:n.2126-10927C>T | |
| ENST00000407950.5:c.2102-10927C>T | ENSP00000385031.1:n.2102-10927C>T | |
| ENST00000493142.1:n.304-10927C>T | ||
| NM_004080.2:c.2126-10927C>T | NP_004071.1:n.2126-10927C>T | |
| NM_145695.2:c.2126-10927C>T | NP_663733.1:n.2126-10927C>T | |
| XM_005249628.1:c.2126-10927C>T | XP_005249685.1:n.2126-10927C>T | |
| XM_005249629.1:c.2123-10927C>T | XP_005249686.1:n.2123-10927C>T | |
| XM_005249630.1:c.2105-10927C>T | XP_005249687.1:n.2105-10927C>T | |
| XM_005249631.2:c.2069-10927C>T | XP_005249688.1:n.2069-10927C>T | |
| XM_011515153.1:c.2126-10927C>T | XP_011513455.1:n.2126-10927C>T | |
| XM_011515154.1:c.2126-10927C>T | XP_011513456.1:n.2126-10927C>T | |
| XM_011515155.1:c.2126-10927C>T | XP_011513457.1:n.2126-10927C>T | |
| XM_011515156.1:c.2102-10927C>T | XP_011513458.1:n.2102-10927C>T | |
| XM_011515157.1:c.2090-10927C>T | XP_011513459.1:n.2090-10927C>T | |
| XM_011515158.1:c.2069-10927C>T | XP_011513460.1:n.2069-10927C>T | |
| XM_011515159.1:c.2123-10927C>T | XP_011513461.1:n.2123-10927C>T | |
| NM_001350705.1:c.2126-10927C>T | NP_001337634.1:n.2126-10927C>T | |
| NM_001350706.1:c.2126-10927C>T | NP_001337635.1:n.2126-10927C>T | |
| NM_001350707.1:c.2123-10927C>T | NP_001337636.1:n.2123-10927C>T | |
| NM_001350708.1:c.2123-10927C>T | NP_001337637.1:n.2123-10927C>T | |
| NM_001350709.1:c.2123-10927C>T | NP_001337638.1:n.2123-10927C>T | |
| NM_001350711.1:c.2102-10927C>T | NP_001337640.1:n.2102-10927C>T | |
| NM_001350712.1:c.2102-10927C>T | NP_001337641.1:n.2102-10927C>T | |
| NM_001350714.1:c.2102-10927C>T | NP_001337643.1:n.2102-10927C>T | |
| NM_001350715.1:c.2105-10927C>T | NP_001337644.1:n.2105-10927C>T | |
| NM_001350716.1:c.2105-10927C>T | NP_001337645.1:n.2105-10927C>T | |
| NM_001350717.1:c.2090-10927C>T | NP_001337646.1:n.2090-10927C>T | |
| NM_001350718.1:c.2090-10927C>T | NP_001337647.1:n.2090-10927C>T | |
| NM_001350719.1:c.2090-10927C>T | NP_001337648.1:n.2090-10927C>T | |
| NM_001350720.1:c.2069-10927C>T | NP_001337649.1:n.2069-10927C>T | |
| NM_001350721.1:c.2069-10927C>T | NP_001337650.1:n.2069-10927C>T | |
| NM_001350722.1:c.2000-10927C>T | NP_001337651.1:n.2000-10927C>T | |
| NM_001350723.1:c.2000-10927C>T | NP_001337652.1:n.2000-10927C>T | |
| NM_001350724.1:c.1976-10927C>T | NP_001337653.1:n.1976-10927C>T | |
| XM_011515154.2:c.2126-10927C>T | XP_011513456.1:n.2126-10927C>T | |
| NM_001350706.2:c.2126-10927C>T | NP_001337635.1:n.2126-10927C>T | |
| NM_001350707.2:c.2123-10927C>T | NP_001337636.1:n.2123-10927C>T | |
| NM_001350709.2:c.2123-10927C>T MANE Select | NP_001337638.1:n.2123-10927C>T | |
| NM_001350711.2:c.2102-10927C>T | NP_001337640.1:n.2102-10927C>T | |
| NM_001350714.2:c.2102-10927C>T | NP_001337643.1:n.2102-10927C>T | |
| NM_001350716.2:c.2105-10927C>T | NP_001337645.1:n.2105-10927C>T | |
| NM_001350717.2:c.2090-10927C>T | NP_001337646.1:n.2090-10927C>T | |
| NM_001350719.2:c.2090-10927C>T | NP_001337648.1:n.2090-10927C>T | |
| NM_001350721.2:c.2069-10927C>T | NP_001337650.1:n.2069-10927C>T | |
| NM_001350722.2:c.2000-10927C>T | NP_001337651.1:n.2000-10927C>T | |
| NM_001350723.2:c.2000-10927C>T | NP_001337652.1:n.2000-10927C>T | |
| NM_001350724.2:c.1976-10927C>T | NP_001337653.1:n.1976-10927C>T |