Linked Data
dbSNP Id:
rs10892151
gnomAD v2:
11-117531731-C-T
gnomAD v3:
11-117661016-C-T
gnomAD v4:
11-117661016-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117661016C>T , CM000673.2:g.117661016C>T | GRCh38 |
| NC_000011.9:g.117531731C>T , CM000673.1:g.117531731C>T | GRCh37 |
| NC_000011.8:g.117036941C>T | NCBI36 |
| NG_051656.1:g.141246G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651172.1:c.691+115775G>A | ENSP00000498407.1:n.691+115775G>A | |
| ENST00000651296.2:c.511+115775G>A MANE Select | ENSP00000498769.1:n.511+115775G>A | |
| ENST00000321322.6:c.691+115775G>A | ENSP00000315465.6:n.691+115775G>A | |
| ENST00000527706.5:c.102+119739G>A | ENSP00000434335.1:n.102+119739G>A | |
| NM_020693.3:c.691+115775G>A | NP_065744.2:n.691+115775G>A | |
| XM_011542917.1:c.511+115775G>A | XP_011541219.1:n.511+115775G>A | |
| XM_011542918.1:c.247+115775G>A | XP_011541220.1:n.247+115775G>A | |
| XR_948060.1:n.72+1890C>T | ||
| XM_011542917.2:c.511+115775G>A | XP_011541219.1:n.511+115775G>A | |
| XR_948060.2:n.2081+1890C>T | ||
| NM_001367904.1:c.511+115775G>A | NP_001354833.1:n.511+115775G>A | |
| NM_001367905.1:c.103+115775G>A | NP_001354834.1:n.103+115775G>A | |
| NM_020693.4:c.511+115775G>A MANE Select | NP_065744.3:n.511+115775G>A |