Linked Data
ClinVar Variation Id:
378017
dbSNP Id:
rs370506451
ExAC:
11:2594223 C / T
gnomAD v2:
11-2594223-C-T
gnomAD v3:
11-2572993-C-T
gnomAD v4:
11-2572993-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572993C>T , CM000673.2:g.2572993C>T | GRCh38 |
| NC_000011.9:g.2594223C>T , CM000673.1:g.2594223C>T | GRCh37 |
| NC_000011.8:g.2550799C>T | NCBI36 |
| NG_008935.1:g.133003C>T , LRG_287:g.133003C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.660+7C>T | ENSP00000434560.2:n.660+7C>T | |
| ENST00000646564.2:c.478-10442C>T | ENSP00000495806.2:n.478-10442C>T | |
| ENST00000155840.12:c.921+7C>T MANE Select | ENSP00000155840.2:n.921+7C>T | |
| ENST00000335475.6:c.540+7C>T | ENSP00000334497.5:n.540+7C>T | |
| ENST00000646564.1:c.124-10442C>T | ENSP00000495806.1:n.124-10442C>T | |
| ENST00000155840.9:c.921+7C>T | ENSP00000155840.2:n.921+7C>T | |
| ENST00000335475.5:c.540+7C>T | ENSP00000334497.5:n.540+7C>T | |
| NM_000218.2:c.921+7C>T , LRG_287t1:c.921+7C>T | NP_000209.2:n.921+7C>T | |
| NM_181798.1:c.540+7C>T , LRG_287t2:c.540+7C>T | NP_861463.1:n.540+7C>T | |
| NM_000218.3:c.921+7C>T MANE Select | NP_000209.2:n.921+7C>T |