Linked Data
ClinVar Variation Id:
381082
dbSNP Id:
rs892742196
gnomAD v2:
1-201029783-T-A
gnomAD v3:
1-201060655-T-A
gnomAD v4:
1-201060655-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201060655T>A , CM000663.2:g.201060655T>A | GRCh38 |
| NC_000001.10:g.201029783T>A , CM000663.1:g.201029783T>A | GRCh37 |
| NC_000001.9:g.199296406T>A | NCBI36 |
| NG_009816.1:g.56912A>T | |
| NG_009816.2:g.56912A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.3414+3A>T MANE Select | ENSP00000355192.3:n.3414+3A>T | |
| ENST00000679417.1:c.*2577+3A>T | ENSP00000506706.1:n.*2577+3A>T | |
| ENST00000680051.1:n.540+3A>T | ||
| ENST00000680059.1:c.*932+3A>T | ENSP00000504944.1:n.*932+3A>T | |
| ENST00000681078.1:c.3414+3A>T | ENSP00000506645.1:n.3414+3A>T | |
| ENST00000681190.1:c.3414+3A>T | ENSP00000506428.1:n.3414+3A>T | |
| ENST00000681874.1:c.3354+3A>T | ENSP00000505162.1:n.3354+3A>T | |
| ENST00000362061.3:c.3414+3A>T | ENSP00000355192.3:n.3414+3A>T | |
| ENST00000367338.7:c.3414+3A>T | ENSP00000356307.3:n.3414+3A>T | |
| NM_000069.2:c.3414+3A>T | NP_000060.2:n.3414+3A>T | |
| XM_005245478.2:c.3414+3A>T | XP_005245535.1:n.3414+3A>T | |
| XM_005245478.3:c.3414+3A>T | XP_005245535.1:n.3414+3A>T | |
| NM_000069.3:c.3414+3A>T MANE Select | NP_000060.2:n.3414+3A>T |