Linked Data
ClinVar Variation Id:
542852
dbSNP Id:
rs139690983
ExAC:
1:179851792 A / T
gnomAD v2:
1-179851792-A-T
gnomAD v3:
1-179882657-A-T
gnomAD v4:
1-179882657-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179882657A>T , CM000663.2:g.179882657A>T | GRCh38 |
| NC_000001.10:g.179851792A>T , CM000663.1:g.179851792A>T | GRCh37 |
| NC_000001.9:g.178118415A>T | NCBI36 |
| NG_042316.1:g.5616A>T | |
| NG_053185.1:g.958T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606911.7:c.155A>T MANE Select | ENSP00000476687.1:p.Gln52Leu | |
| ENST00000271583.7:c.155A>T | ENSP00000271583.3:p.Gln52Leu | |
| ENST00000528443.6:c.155A>T | ENSP00000435365.2:p.Gln52Leu | |
| ENST00000606911.6:c.155A>T | ENSP00000476687.1:p.Gln52Leu | |
| NM_001267578.1:c.155A>T | NP_001254507.1:p.Gln52Leu | |
| NM_015602.3:c.155A>T | NP_056417.2:p.Gln52Leu | |
| XM_011509403.1:c.155A>T | XP_011507705.1:p.Gln52Leu | |
| XM_011509404.1:c.155A>T | XP_011507706.1:p.Gln52Leu | |
| XM_011509403.2:c.155A>T | XP_011507705.1:p.Gln52Leu | |
| XM_011509404.2:c.155A>T | XP_011507706.1:p.Gln52Leu | |
| NM_001267578.2:c.155A>T | NP_001254507.1:p.Gln52Leu | |
| NM_015602.4:c.155A>T MANE Select | NP_056417.2:p.Gln52Leu |