Linked Data
ClinVar Variation Id:
1629954
ClinVar RCV Id:
RCV002118704
dbSNP Id:
rs886063740
gnomAD v2:
9-140708974-C-T
gnomAD v3:
9-137814522-C-T
gnomAD v4:
9-137814522-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137814522C>T , CM000671.2:g.137814522C>T | GRCh38 |
| NC_000009.11:g.140708974C>T , CM000671.1:g.140708974C>T | GRCh37 |
| NC_000009.10:g.139828795C>T | NCBI36 |
| NG_011776.1:g.200531C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000460843.6:c.3258+14C>T MANE Select | ENSP00000417980.1:n.3258+14C>T | |
| ENST00000637161.1:c.3165+14C>T | ENSP00000490328.1:n.3165+14C>T | |
| ENST00000637261.1:c.3298+14C>T | ENSP00000490815.1:n.3298+14C>T | |
| ENST00000637407.1:n.49+14C>T | ||
| ENST00000637891.1:c.1332+14C>T | ENSP00000490907.1:n.1332+14C>T | |
| ENST00000460843.5:c.3258+14C>T | ENSP00000417980.1:n.3258+14C>T | |
| ENST00000462942.3:c.2115+14C>T | ENSP00000436107.1:n.2115+14C>T | |
| ENST00000483653.1:n.132C>T | ||
| ENST00000488242.2:n.784+14C>T | ||
| NM_024757.4:c.3258+14C>T | NP_079033.4:n.3258+14C>T | |
| XM_005266105.3:c.3249+14C>T | XP_005266162.1:n.3249+14C>T | |
| XM_005266110.1:c.3165+14C>T | XP_005266167.1:n.3165+14C>T | |
| XM_006717288.2:c.3240+14C>T | XP_006717351.1:n.3240+14C>T | |
| XM_011519021.1:c.3267+14C>T | XP_011517323.1:n.3267+14C>T | |
| XM_011519022.1:c.3264+14C>T | XP_011517324.1:n.3264+14C>T | |
| XM_011519023.1:c.3246+14C>T | XP_011517325.1:n.3246+14C>T | |
| XM_011519024.1:c.3189+14C>T | XP_011517326.1:n.3189+14C>T | |
| XM_011519025.1:c.3165+14C>T | XP_011517327.1:n.3165+14C>T | |
| XM_011519026.1:c.3123+14C>T | XP_011517328.1:n.3123+14C>T | |
| XM_011519029.1:c.1689+14C>T | XP_011517331.1:n.1689+14C>T | |
| XM_011519030.1:c.1041+14C>T | XP_011517332.1:n.1041+14C>T | |
| XM_011519031.1:c.828+14C>T | XP_011517333.1:n.828+14C>T | |
| XM_011519032.1:c.828+14C>T | XP_011517334.1:n.828+14C>T | |
| XM_011519033.1:c.3102+14C>T | XP_011517335.1:n.3102+14C>T | |
| XR_930459.1:n.5337G>A | ||
| NM_001354263.1:c.3237+14C>T | NP_001341192.1:n.3237+14C>T | |
| XM_005266105.5:c.3249+14C>T | XP_005266162.1:n.3249+14C>T | |
| XM_011519021.3:c.3267+14C>T | XP_011517323.1:n.3267+14C>T | |
| XM_011519022.3:c.3264+14C>T | XP_011517324.1:n.3264+14C>T | |
| XM_011519023.3:c.3246+14C>T | XP_011517325.1:n.3246+14C>T | |
| XM_011519029.3:c.1689+14C>T | XP_011517331.1:n.1689+14C>T | |
| XM_011519030.3:c.1041+14C>T | XP_011517332.1:n.1041+14C>T | |
| XM_017015134.1:c.3243+14C>T | XP_016870623.1:n.3243+14C>T | |
| XM_017015136.2:c.3159+14C>T | XP_016870625.1:n.3159+14C>T | |
| XM_017015137.1:c.3144+14C>T | XP_016870626.1:n.3144+14C>T | |
| XM_017015138.1:c.3144+14C>T | XP_016870627.1:n.3144+14C>T | |
| XM_024447674.1:c.3087+14C>T | XP_024303442.1:n.3087+14C>T | |
| XM_024447675.1:c.3021+14C>T | XP_024303443.1:n.3021+14C>T | |
| XM_024447676.1:c.2382+14C>T | XP_024303444.1:n.2382+14C>T | |
| XM_024447677.1:c.2382+14C>T | XP_024303445.1:n.2382+14C>T | |
| XM_024447680.1:c.3000+14C>T | XP_024303448.1:n.3000+14C>T | |
| NM_024757.5:c.3258+14C>T MANE Select | NP_079033.4:n.3258+14C>T | |
| NM_001354263.2:c.3237+14C>T | NP_001341192.1:n.3237+14C>T |