Linked Data
ClinVar Variation Id:
287706
dbSNP Id:
rs370590743
ExAC:
11:45935361 G / T
gnomAD v2:
11-45935361-G-T
gnomAD v3:
11-45913810-G-T
gnomAD v4:
11-45913810-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45913810G>T , CM000673.2:g.45913810G>T | GRCh38 |
| NC_000011.9:g.45935361G>T , CM000673.1:g.45935361G>T | GRCh37 |
| NC_000011.8:g.45891937G>T | NCBI36 |
| NG_008460.1:g.9314C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.887+9C>A MANE Select | ENSP00000368024.5:n.887+9C>A | |
| ENST00000241041.7:c.887+9C>A | ENSP00000241041.3:n.887+9C>A | |
| ENST00000378750.9:c.887+9C>A | ENSP00000368024.5:n.887+9C>A | |
| ENST00000532681.5:c.602+9C>A | ENSP00000434654.1:n.602+9C>A | |
| NM_004813.2:c.887+9C>A | NP_004804.1:n.887+9C>A | |
| NM_057174.2:c.887+9C>A | NP_476515.1:n.887+9C>A | |
| XM_011520474.1:c.764+9C>A | XP_011518776.1:n.764+9C>A | |
| NM_004813.3:c.887+9C>A | NP_004804.1:n.887+9C>A | |
| NM_004813.4:c.887+9C>A MANE Select | NP_004804.2:n.887+9C>A | |
| NM_057174.3:c.887+9C>A | NP_476515.2:n.887+9C>A |