Linked Data
ClinVar Variation Id:
259543
dbSNP Id:
rs550316466
ExAC:
11:45939055 G / A
gnomAD v2:
11-45939055-G-A
gnomAD v4:
11-45917504-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45917504G>A , CM000673.2:g.45917504G>A | GRCh38 |
| NC_000011.9:g.45939055G>A , CM000673.1:g.45939055G>A | GRCh37 |
| NC_000011.8:g.45895631G>A | NCBI36 |
| NG_008460.1:g.5620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.113-11C>T MANE Select | ENSP00000368024.5:n.113-11C>T | |
| ENST00000241041.7:c.113-11C>T | ENSP00000241041.3:n.113-11C>T | |
| ENST00000378750.9:c.113-11C>T | ENSP00000368024.5:n.113-11C>T | |
| ENST00000525192.5:c.-173-11C>T | ENSP00000431309.1:n.-173-11C>T | |
| ENST00000525229.5:c.*66-11C>T | ENSP00000431132.1:n.*66-11C>T | |
| ENST00000528674.5:c.39-11C>T | ENSP00000434060.1:n.39-11C>T | |
| ENST00000529030.1:c.113-11C>T | ENSP00000432486.1:n.113-11C>T | |
| ENST00000532554.5:n.95-11C>T | ||
| ENST00000532681.5:c.-173-11C>T | ENSP00000434654.1:n.-173-11C>T | |
| ENST00000533151.5:c.113-11C>T | ENSP00000433045.1:n.113-11C>T | |
| NM_004813.2:c.113-11C>T | NP_004804.1:n.113-11C>T | |
| NM_057174.2:c.113-11C>T | NP_476515.1:n.113-11C>T | |
| NM_004813.3:c.113-11C>T | NP_004804.1:n.113-11C>T | |
| NM_004813.4:c.113-11C>T MANE Select | NP_004804.2:n.113-11C>T | |
| NM_057174.3:c.113-11C>T | NP_476515.2:n.113-11C>T |