Linked Data
ClinVar Variation Id:
522870
ClinVar RCV Id:
RCV000626055
dbSNP Id:
rs201518227
ExAC:
1:179887049 C / T
gnomAD v2:
1-179887049-C-T
gnomAD v3:
1-179917914-C-T
gnomAD v4:
1-179917914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179917914C>T , CM000663.2:g.179917914C>T | GRCh38 |
| NC_000001.10:g.179887049C>T , CM000663.1:g.179887049C>T | GRCh37 |
| NC_000001.9:g.178153672C>T | NCBI36 |
| NG_042316.1:g.40873C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606911.7:c.1427C>T MANE Select | ENSP00000476687.1:p.Ala476Val | |
| ENST00000271583.7:c.1475C>T | ENSP00000271583.3:p.Ala492Val | |
| ENST00000435319.8:c.1064C>T | ENSP00000393292.3:p.Ala355Val | |
| ENST00000447964.1:c.631C>T | ||
| ENST00000528443.6:c.1430C>T | ENSP00000435365.2:p.Ala477Val | |
| ENST00000606911.6:c.1427C>T | ENSP00000476687.1:p.Ala476Val | |
| NM_001267578.1:c.1430C>T | NP_001254507.1:p.Ala477Val | |
| NM_015602.3:c.1427C>T | NP_056417.2:p.Ala476Val | |
| XM_011509403.1:c.1475C>T | XP_011507705.1:p.Ala492Val | |
| XM_011509404.1:c.1472C>T | XP_011507706.1:p.Ala491Val | |
| XM_011509403.2:c.1475C>T | XP_011507705.1:p.Ala492Val | |
| XM_011509404.2:c.1472C>T | XP_011507706.1:p.Ala491Val | |
| XM_024446305.1:c.572C>T | XP_024302073.1:p.Ala191Val | |
| NM_001267578.2:c.1430C>T | NP_001254507.1:p.Ala477Val | |
| NM_015602.4:c.1427C>T MANE Select | NP_056417.2:p.Ala476Val |