Linked Data
ClinVar Variation Id:
196868
dbSNP Id:
rs141456140
ExAC:
17:1561844 G / A
gnomAD v2:
17-1561844-G-A
gnomAD v3:
17-1658550-G-A
gnomAD v4:
17-1658550-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1658550G>A , CM000679.2:g.1658550G>A | GRCh38 |
| NC_000017.10:g.1561844G>A , CM000679.1:g.1561844G>A | GRCh37 |
| NC_000017.9:g.1508594G>A | NCBI36 |
| NG_009118.1:g.31333C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.5172C>T | ENSP00000460849.2:p.Asn1724= | |
| ENST00000703537.1:c.1163C>T | ||
| ENST00000703538.1:c.*5075C>T | ENSP00000515361.1:n.*5075C>T | |
| ENST00000703539.1:n.1666C>T | ||
| ENST00000703540.1:c.5205C>T | ENSP00000515362.1:p.Asn1735= | |
| ENST00000703541.1:c.5217C>T | ENSP00000515363.1:p.Asn1739= | |
| ENST00000304992.11:c.5352C>T MANE Select | ENSP00000304350.6:p.Asn1784= | |
| ENST00000304992.10:c.5352C>T | ENSP00000304350.6:p.Asn1784= | |
| ENST00000572621.5:c.5352C>T | ENSP00000460348.1:p.Asn1784= | |
| NM_006445.3:c.5352C>T | NP_006436.3:p.Asn1784= | |
| XM_024450537.1:c.5352C>T | XP_024306305.1:p.Asn1784= | |
| NM_006445.4:c.5352C>T MANE Select | NP_006436.3:p.Asn1784= |