Linked Data
ClinVar Variation Id:
2446142
dbSNP Id:
rs146913514
ExAC:
3:93598003 T / A
gnomAD v2:
3-93598003-T-A
gnomAD v3:
3-93879159-T-A
gnomAD v4:
3-93879159-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93879159T>A , CM000665.2:g.93879159T>A | GRCh38 |
| NC_000003.11:g.93598003T>A , CM000665.1:g.93598003T>A | GRCh37 |
| NC_000003.10:g.95080693T>A | NCBI36 |
| NG_009813.1:g.99932A>T , LRG_572:g.99932A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1644+4A>T | ENSP00000330021.7:n.1644+4A>T | |
| ENST00000394236.9:c.1644+4A>T MANE Select | ENSP00000377783.3:n.1644+4A>T | |
| ENST00000407433.6:c.1599+4A>T | ENSP00000385794.2:n.1599+4A>T | |
| ENST00000647936.1:c.1644+4A>T | ENSP00000496822.1:n.1644+4A>T | |
| ENST00000648381.1:n.1812+4A>T | ||
| ENST00000648853.1:c.1602+4A>T | ENSP00000497262.1:n.1602+4A>T | |
| ENST00000649103.1:c.1743+4A>T | ENSP00000497962.1:n.1743+4A>T | |
| ENST00000649585.1:c.587+4A>T | ENSP00000498163.1:n.587+4A>T | |
| ENST00000650591.1:c.1740+4A>T | ENSP00000497376.1:n.1740+4A>T | |
| ENST00000394236.7:c.1644+4A>T | ENSP00000377783.3:n.1644+4A>T | |
| ENST00000407433.5:c.1251+4A>T | ENSP00000385794.1:n.1251+4A>T | |
| NM_000313.3:c.1644+4A>T , LRG_572t1:c.1644+4A>T | NP_000304.2:n.1644+4A>T | |
| NM_001314077.1:c.1740+4A>T , LRG_572t2:c.1740+4A>T | NP_001301006.1:n.1740+4A>T | |
| NM_000313.4:c.1644+4A>T MANE Select | NP_000304.2:n.1644+4A>T | |
| NM_001314077.2:c.1740+4A>T | NP_001301006.1:n.1740+4A>T |