Linked Data
ClinVar Variation Id:
183158
ClinVar RCV Id:
RCV000170568
dbSNP Id:
rs2403254
gnomAD v2:
11-18325146-C-T
gnomAD v3:
11-18303599-C-T
gnomAD v4:
11-18303599-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18303599C>T , CM000673.2:g.18303599C>T | GRCh38 |
| NC_000011.9:g.18325146C>T , CM000673.1:g.18325146C>T | GRCh37 |
| NC_000011.8:g.18281722C>T | NCBI36 |
| NG_008877.1:g.23576G>A , LRG_586:g.23576G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349215.8:c.896+1823G>A MANE Select | ENSP00000265967.5:n.896+1823G>A | |
| ENST00000349215.7:c.896+1823G>A | ENSP00000265967.5:n.896+1823G>A | |
| ENST00000396253.7:c.554+1823G>A | ENSP00000379552.3:n.554+1823G>A | |
| ENST00000438420.6:c.554+1823G>A | ENSP00000399590.2:n.554+1823G>A | |
| ENST00000531848.1:c.554+1823G>A | ENSP00000431758.1:n.554+1823G>A | |
| NM_007216.3:c.554+1823G>A | NP_009147.3:n.554+1823G>A | |
| NM_181507.1:c.896+1823G>A , LRG_586t1:c.896+1823G>A | NP_852608.1:n.896+1823G>A | |
| NM_181508.1:c.554+1823G>A | NP_852609.1:n.554+1823G>A | |
| XM_011519862.1:c.896+1823G>A | XP_011518164.1:n.896+1823G>A | |
| XM_011519863.1:c.896+1823G>A | XP_011518165.1:n.896+1823G>A | |
| XM_011519864.1:c.896+1823G>A | XP_011518166.1:n.896+1823G>A | |
| XM_011519865.1:c.785+1823G>A | XP_011518167.1:n.785+1823G>A | |
| XM_011519866.1:c.554+1823G>A | XP_011518168.1:n.554+1823G>A | |
| XM_011519867.1:c.554+1823G>A | XP_011518169.1:n.554+1823G>A | |
| XM_011519868.1:c.554+1823G>A | XP_011518170.1:n.554+1823G>A | |
| XM_011519869.1:c.896+1823G>A | XP_011518171.1:n.896+1823G>A | |
| XM_011519870.1:c.896+1823G>A | XP_011518172.1:n.896+1823G>A | |
| XM_011519871.1:c.896+1823G>A | XP_011518173.1:n.896+1823G>A | |
| XM_011519868.3:c.554+1823G>A | XP_011518170.1:n.554+1823G>A | |
| XM_017017149.1:c.896+1823G>A | XP_016872638.1:n.896+1823G>A | |
| XM_017017150.1:c.896+1823G>A | XP_016872639.1:n.896+1823G>A | |
| XM_017017151.2:c.785+1823G>A | XP_016872640.1:n.785+1823G>A | |
| XM_017017152.1:c.785+1823G>A | XP_016872641.1:n.785+1823G>A | |
| XM_017017153.2:c.785+1823G>A | XP_016872642.1:n.785+1823G>A | |
| XM_017017154.1:c.554+1823G>A | XP_016872643.1:n.554+1823G>A | |
| XR_001747750.1:n.1165+1823G>A | ||
| XR_001747751.1:n.1165+1823G>A | ||
| XR_001747752.1:n.921+1823G>A | ||
| XR_001747753.1:n.1038+1823G>A | ||
| XR_001747754.2:n.1140+1823G>A | ||
| XR_001747755.2:n.1140+1823G>A | ||
| XR_001747756.2:n.1153+1823G>A | ||
| NM_007216.4:c.554+1823G>A | NP_009147.3:n.554+1823G>A | |
| NM_181507.2:c.896+1823G>A MANE Select | NP_852608.1:n.896+1823G>A |