Linked Data
ClinVar Variation Id:
756532
ClinVar RCV Id:
RCV001167304
dbSNP Id:
rs118204429
gnomAD v2:
9-104192183-G-T
gnomAD v3:
9-101429901-G-T
gnomAD v4:
9-101429901-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101429901G>T , CM000671.2:g.101429901G>T | GRCh38 |
| NC_000009.11:g.104192183G>T , CM000671.1:g.104192183G>T | GRCh37 |
| NC_000009.10:g.103232004G>T | NCBI36 |
| NG_012387.1:g.10880C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.178C>A MANE Select | ENSP00000497767.1:p.Arg60= | |
| ENST00000648064.1:c.178C>A | ENSP00000497990.1:p.Arg60= | |
| ENST00000648423.1:c.178C>A | ENSP00000497985.1:p.Arg60= | |
| ENST00000648758.1:c.178C>A | ENSP00000497731.1:p.Arg60= | |
| ENST00000648906.1:n.348C>A | ||
| ENST00000649902.1:c.178C>A | ENSP00000497216.1:p.Arg60= | |
| ENST00000650613.1:n.254C>A | ||
| ENST00000374855.8:c.178C>A | ENSP00000363988.4:p.Arg60= | |
| ENST00000616752.1:c.178C>A | ENSP00000481363.1:p.Arg60= | |
| NM_000035.3:c.178C>A | NP_000026.2:p.Arg60= | |
| NM_000035.4:c.178C>A MANE Select | NP_000026.2:p.Arg60= |