Linked Data
ClinVar Variation Id:
1200691
ClinVar RCV Id:
RCV001565785
dbSNP Id:
rs191880936
ExAC:
22:38119514 G / T
gnomAD v2:
22-38119514-G-T
gnomAD v3:
22-37723507-G-T
gnomAD v4:
22-37723507-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37723507G>T , CM000684.2:g.37723507G>T | GRCh38 |
| NC_000022.10:g.38119514G>T , CM000684.1:g.38119514G>T | GRCh37 |
| NC_000022.9:g.36449460G>T | NCBI36 |
| NG_012857.1:g.31520G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.951G>T MANE Select | ENSP00000496394.1:p.Glu317Asp | |
| ENST00000344404.10:c.*434G>T | ENSP00000340312.6:n.*434G>T | |
| ENST00000406386.7:c.951G>T | ENSP00000384312.3:p.Glu317Asp | |
| ENST00000455236.4:c.1908G>T | ENSP00000477208.1:n.1908G>T | |
| ENST00000492485.5:n.885G>T | ||
| NM_001039141.2:c.951G>T | NP_001034230.1:p.Glu317Asp | |
| NM_001039141.3:c.951G>T MANE Select | NP_001034230.1:p.Glu317Asp |