Linked Data
ClinVar Variation Id:
402221
dbSNP Id:
rs548986682
ExAC:
16:49669693 C / T
gnomAD v2:
16-49669693-C-T
gnomAD v3:
16-49635782-C-T
gnomAD v4:
16-49635782-C-T
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.49635782C>T , CM000678.2:g.49635782C>T | GRCh38 |
| NC_000016.9:g.49669693C>T , CM000678.1:g.49669693C>T | GRCh37 |
| NC_000016.8:g.48227194C>T | NCBI36 |
| NG_032972.1:g.227138G>A | |
| NG_032972.2:g.227138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563137.7:c.3394G>A MANE Select | ENSP00000455588.3:p.Glu1132Lys | |
| ENST00000262383.6:c.3370G>A | ENSP00000262383.2:p.Glu1124Lys | |
| ENST00000535559.5:c.3019G>A | ENSP00000442321.1:p.Glu1007Lys | |
| ENST00000561648.5:c.3370G>A | ENSP00000455426.1:p.Glu1124Lys | |
| ENST00000562520.1:c.3190G>A | ENSP00000457664.1:p.Glu1064Lys | |
| ENST00000562871.5:c.3190G>A | ENSP00000457928.1:p.Glu1064Lys | |
| ENST00000563137.6:c.3190G>A | ENSP00000455588.2:p.Glu1064Lys | |
| ENST00000567169.5:c.3019G>A | ENSP00000455061.1:p.Glu1007Lys | |
| NM_001271620.1:c.3190G>A | NP_001258549.1:p.Glu1064Lys | |
| NM_015069.3:c.3370G>A | NP_055884.2:p.Glu1124Lys | |
| XM_005255856.3:c.3190G>A | XP_005255913.1:p.Glu1064Lys | |
| XM_005255857.3:c.3019G>A | XP_005255914.1:p.Glu1007Lys | |
| XM_006721171.2:c.3415G>A | XP_006721234.1:p.Glu1139Lys | |
| XM_011522962.1:c.3463G>A | XP_011521264.1:p.Glu1155Lys | |
| NM_001271620.2:c.3190G>A | NP_001258549.1:p.Glu1064Lys | |
| NM_001330533.1:c.3019G>A | NP_001317462.1:p.Glu1007Lys | |
| NM_015069.4:c.3370G>A | NP_055884.2:p.Glu1124Lys | |
| XM_005255856.4:c.3190G>A | XP_005255913.1:p.Glu1064Lys | |
| XM_006721171.4:c.3415G>A | XP_006721234.1:p.Glu1139Lys | |
| XM_017023076.2:c.3394G>A | XP_016878565.1:p.Glu1132Lys | |
| XM_017023077.1:c.3190G>A | XP_016878566.1:p.Glu1064Lys | |
| XM_017023078.1:c.3190G>A | XP_016878567.1:p.Glu1064Lys | |
| NM_001330533.2:c.3019G>A | NP_001317462.1:p.Glu1007Lys | |
| NM_001379286.1:c.3394G>A MANE Select | NP_001366215.1:p.Glu1132Lys | |
| NM_015069.5:c.3370G>A | NP_055884.2:p.Glu1124Lys |