Linked Data
ClinVar Variation Id:
5212
dbSNP Id:
rs267607100
ExAC:
6:149699739 C / A
gnomAD v2:
6-149699739-C-A
gnomAD v3:
6-149378603-C-A
gnomAD v4:
6-149378603-C-A
PubMed:
PMID:20493459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149378603C>A , CM000668.2:g.149378603C>A | GRCh38 |
| NC_000006.11:g.149699739C>A , CM000668.1:g.149699739C>A | GRCh37 |
| NC_000006.10:g.149741432C>A | NCBI36 |
| NG_021386.1:g.65304C>A | |
| NG_021386.2:g.165680C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703212.1:n.1103C>A | ||
| ENST00000703213.1:c.688C>A | ENSP00000515239.1:p.Gln230Lys | |
| ENST00000636456.1:c.-96-69C>A | ENSP00000490379.1:n.-96-69C>A | |
| ENST00000637181.2:c.688C>A MANE Select | ENSP00000490618.1:p.Gln230Lys | |
| ENST00000367456.5:c.688C>A | ENSP00000356426.1:p.Gln230Lys | |
| ENST00000470466.5:c.688C>A | ENSP00000432709.1:p.Gln230Lys | |
| ENST00000538427.5:c.688C>A | ENSP00000445752.1:p.Gln230Lys | |
| NM_001292034.2:c.688C>A | NP_001278963.1:p.Gln230Lys | |
| NM_001292035.2:c.592C>A | NP_001278964.1:p.Gln198Lys | |
| NM_015093.5:c.688C>A | NP_055908.1:p.Gln230Lys | |
| XM_006715403.2:c.688C>A | XP_006715466.1:p.Gln230Lys | |
| XM_011535633.1:c.688C>A | XP_011533935.1:p.Gln230Lys | |
| XM_011535634.1:c.688C>A | XP_011533936.1:p.Gln230Lys | |
| XM_011535633.2:c.688C>A | XP_011533935.1:p.Gln230Lys | |
| XM_017010591.1:c.688C>A | XP_016866080.1:p.Gln230Lys | |
| XM_017010592.2:c.688C>A | XP_016866081.1:p.Gln230Lys | |
| NM_001292034.3:c.688C>A MANE Select | NP_001278963.1:p.Gln230Lys | |
| NM_001292035.3:c.592C>A | NP_001278964.1:p.Gln198Lys | |
| NM_001369506.1:c.688C>A | NP_001356435.1:p.Gln230Lys | |
| NM_015093.6:c.688C>A | NP_055908.1:p.Gln230Lys |