Linked Data
ClinVar Variation Id:
449095
dbSNP Id:
rs120074160
ExAC:
7:66459273 T / A
gnomAD v2:
7-66459273-T-A
gnomAD v3:
7-66994286-T-A
gnomAD v4:
7-66994286-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66994286T>A , CM000669.2:g.66994286T>A | GRCh38 |
| NC_000007.13:g.66459273T>A , CM000669.1:g.66459273T>A | GRCh37 |
| NC_000007.12:g.66096708T>A | NCBI36 |
| NG_007277.1:g.6316A>T , LRG_104:g.6316A>T | |
| NG_033069.1:g.2482T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414306.6:c.184A>T | ENSP00000394586.1:p.Lys62Ter | |
| ENST00000697860.1:n.151A>T | ||
| ENST00000697861.1:c.184A>T | ENSP00000513460.1:p.Lys62Ter | |
| ENST00000697862.1:c.184A>T | ENSP00000513461.1:p.Lys62Ter | |
| ENST00000697863.1:c.127A>T | ENSP00000513462.1:p.Lys43Ter | |
| ENST00000697864.1:n.1328A>T | ||
| ENST00000697865.1:c.127A>T | ENSP00000513463.1:p.Lys43Ter | |
| ENST00000697866.1:c.-135A>T | ENSP00000513464.1:n.-135A>T | |
| ENST00000697867.1:c.24A>T | ||
| ENST00000697868.1:c.129-4A>T | ENSP00000513466.1:n.129-4A>T | |
| ENST00000697869.1:c.129-9A>T | ENSP00000513467.1:n.129-9A>T | |
| ENST00000697897.1:c.184A>T | ENSP00000513469.1:p.Lys62Ter | |
| ENST00000246868.7:c.184A>T MANE Select | ENSP00000246868.2:p.Lys62Ter | |
| ENST00000246868.6:c.184A>T | ENSP00000246868.2:p.Lys62Ter | |
| ENST00000414306.5:c.184A>T | ENSP00000394586.1:p.Lys62Ter | |
| ENST00000463579.1:n.81A>T | ||
| ENST00000490953.5:n.333A>T | ||
| ENST00000617799.1:c.184A>T | ENSP00000483040.1:p.Lys62Ter | |
| NM_016038.2:c.184A>T , LRG_104t1:c.184A>T | NP_057122.2:p.Lys62Ter | |
| NM_016038.3:c.184A>T | NP_057122.2:p.Lys62Ter | |
| NM_016038.4:c.184A>T MANE Select | NP_057122.2:p.Lys62Ter |