Linked Data
ClinVar Variation Id:
472
dbSNP Id:
rs118204429
ExAC:
9:104192183 G / A
gnomAD v2:
9-104192183-G-A
gnomAD v3:
9-101429901-G-A
gnomAD v4:
9-101429901-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101429901G>A , CM000671.2:g.101429901G>A | GRCh38 |
| NC_000009.11:g.104192183G>A , CM000671.1:g.104192183G>A | GRCh37 |
| NC_000009.10:g.103232004G>A | NCBI36 |
| NG_012387.1:g.10880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.178C>T MANE Select | ENSP00000497767.1:p.Arg60Ter | |
| ENST00000648064.1:c.178C>T | ENSP00000497990.1:p.Arg60Ter | |
| ENST00000648423.1:c.178C>T | ENSP00000497985.1:p.Arg60Ter | |
| ENST00000648758.1:c.178C>T | ENSP00000497731.1:p.Arg60Ter | |
| ENST00000648906.1:n.348C>T | ||
| ENST00000649902.1:c.178C>T | ENSP00000497216.1:p.Arg60Ter | |
| ENST00000650613.1:n.254C>T | ||
| ENST00000374855.8:c.178C>T | ENSP00000363988.4:p.Arg60Ter | |
| ENST00000616752.1:c.178C>T | ENSP00000481363.1:p.Arg60Ter | |
| NM_000035.3:c.178C>T | NP_000026.2:p.Arg60Ter | |
| NM_000035.4:c.178C>T MANE Select | NP_000026.2:p.Arg60Ter |