Linked Data
ClinVar Variation Id:
198814
dbSNP Id:
rs372182266
ExAC:
11:45935760 G / A
gnomAD v2:
11-45935760-G-A
gnomAD v3:
11-45914209-G-A
gnomAD v4:
11-45914209-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45914209G>A , CM000673.2:g.45914209G>A | GRCh38 |
| NC_000011.9:g.45935760G>A , CM000673.1:g.45935760G>A | GRCh37 |
| NC_000011.8:g.45892336G>A | NCBI36 |
| NG_008460.1:g.8915C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.695-6C>T MANE Select | ENSP00000368024.5:n.695-6C>T | |
| ENST00000241041.7:c.695-6C>T | ENSP00000241041.3:n.695-6C>T | |
| ENST00000378750.9:c.695-6C>T | ENSP00000368024.5:n.695-6C>T | |
| ENST00000525192.5:c.410-6C>T | ENSP00000431309.1:n.410-6C>T | |
| ENST00000532554.5:n.466-6C>T | ||
| ENST00000532681.5:c.410-6C>T | ENSP00000434654.1:n.410-6C>T | |
| ENST00000533151.5:c.383-6C>T | ENSP00000433045.1:n.383-6C>T | |
| NM_004813.2:c.695-6C>T | NP_004804.1:n.695-6C>T | |
| NM_057174.2:c.695-6C>T | NP_476515.1:n.695-6C>T | |
| XM_011520474.1:c.572-6C>T | XP_011518776.1:n.572-6C>T | |
| NM_004813.3:c.695-6C>T | NP_004804.1:n.695-6C>T | |
| NM_004813.4:c.695-6C>T MANE Select | NP_004804.2:n.695-6C>T | |
| NM_057174.3:c.695-6C>T | NP_476515.2:n.695-6C>T |