Linked Data
ClinVar Variation Id:
69079
dbSNP Id:
rs150020550
ExAC:
1:201030461 G / A
gnomAD v2:
1-201030461-G-A
gnomAD v3:
1-201061333-G-A
gnomAD v4:
1-201061333-G-A
COSMIC:
COSM110502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201061333G>A , CM000663.2:g.201061333G>A | GRCh38 |
| NC_000001.10:g.201030461G>A , CM000663.1:g.201030461G>A | GRCh37 |
| NC_000001.9:g.199297084G>A | NCBI36 |
| NG_009816.1:g.56234C>T | |
| NG_009816.2:g.56234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.3189C>T MANE Select | ENSP00000355192.3:p.Phe1063= | |
| ENST00000679417.1:c.*2352C>T | ENSP00000506706.1:n.*2352C>T | |
| ENST00000680051.1:n.315C>T | ||
| ENST00000680059.1:c.*707C>T | ENSP00000504944.1:n.*707C>T | |
| ENST00000681078.1:c.3189C>T | ENSP00000506645.1:p.Phe1063= | |
| ENST00000681190.1:c.3189C>T | ENSP00000506428.1:p.Phe1063= | |
| ENST00000681874.1:c.3129C>T | ENSP00000505162.1:p.Phe1043= | |
| ENST00000362061.3:c.3189C>T | ENSP00000355192.3:p.Phe1063= | |
| ENST00000367338.7:c.3189C>T | ENSP00000356307.3:p.Phe1063= | |
| NM_000069.2:c.3189C>T | NP_000060.2:p.Phe1063= | |
| XM_005245478.2:c.3189C>T | XP_005245535.1:p.Phe1063= | |
| XM_005245478.3:c.3189C>T | XP_005245535.1:p.Phe1063= | |
| NM_000069.3:c.3189C>T MANE Select | NP_000060.2:p.Phe1063= |