Linked Data
ClinVar Variation Id:
446685
dbSNP Id:
rs376133710
ExAC:
4:5578118 G / A
gnomAD v2:
4-5578118-G-A
gnomAD v3:
4-5576391-G-A
gnomAD v4:
4-5576391-G-A
PubMed:
PMID:29068549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5576391G>A , CM000666.2:g.5576391G>A | GRCh38 |
| NC_000004.11:g.5578118G>A , CM000666.1:g.5578118G>A | GRCh37 |
| NC_000004.10:g.5629019G>A | NCBI36 |
| NG_015821.1:g.138158C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.3121C>T MANE Select | ENSP00000342144.5:p.Gln1041Ter | |
| ENST00000310917.6:c.2881C>T | ENSP00000311683.2:p.Gln961Ter | |
| ENST00000344408.9:c.3121C>T | ENSP00000342144.5:p.Gln1041Ter | |
| ENST00000475313.5:c.2881C>T | ENSP00000431981.1:p.Gln961Ter | |
| ENST00000509670.1:c.*1514C>T | ENSP00000423876.1:n.*1514C>T | |
| NM_001166136.1:c.2881C>T | NP_001159608.1:p.Gln961Ter | |
| NM_147127.4:c.3121C>T | NP_667338.3:p.Gln1041Ter | |
| XM_011513392.1:c.3130C>T | XP_011511694.1:p.Gln1044Ter | |
| XM_011513393.1:c.3130C>T | XP_011511695.1:p.Gln1044Ter | |
| XM_011513394.1:c.2890C>T | XP_011511696.1:p.Gln964Ter | |
| XM_017007736.1:c.2881C>T | XP_016863225.1:p.Gln961Ter | |
| XM_017007737.1:c.2881C>T | XP_016863226.1:p.Gln961Ter | |
| XM_017007738.1:c.3121C>T | XP_016863227.1:p.Gln1041Ter | |
| XM_017007739.1:c.1441C>T | XP_016863228.1:p.Gln481Ter | |
| XM_024453893.1:c.1441C>T | XP_024309661.1:p.Gln481Ter | |
| XR_001741141.1:n.3123-1619C>T | ||
| NM_147127.5:c.3121C>T MANE Select | NP_667338.3:p.Gln1041Ter | |
| NM_001166136.2:c.2881C>T | NP_001159608.1:p.Gln961Ter |