Linked Data
ClinVar Variation Id:
1230521
ClinVar RCV Id:
RCV001614978
dbSNP Id:
rs1042138
ExAC:
7:93055650 G / A
gnomAD v2:
7-93055650-G-A
gnomAD v3:
7-93426338-G-A
gnomAD v4:
7-93426338-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93426338G>A , CM000669.2:g.93426338G>A | GRCh38 |
| NC_000007.13:g.93055650G>A , CM000669.1:g.93055650G>A | GRCh37 |
| NC_000007.12:g.92893586G>A | NCBI36 |
| NG_013005.1:g.153393C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426151.7:c.*18C>T MANE Select | ENSP00000389295.1:n.*18C>T | |
| ENST00000649521.1:c.*18C>T | ENSP00000497687.1:n.*18C>T | |
| ENST00000359558.6:c.*18C>T | ENSP00000352561.2:n.*18C>T | |
| ENST00000360249.8:c.*953C>T | ENSP00000353385.5:n.*953C>T | |
| ENST00000394441.5:c.*18C>T | ENSP00000377959.1:n.*18C>T | |
| ENST00000421592.5:c.*18C>T | ENSP00000399552.1:n.*18C>T | |
| ENST00000426151.5:c.*18C>T | ENSP00000389295.1:n.*18C>T | |
| NM_001164737.1:c.*18C>T | NP_001158209.1:n.*18C>T | |
| NM_001164738.1:c.*18C>T | NP_001158210.1:n.*18C>T | |
| NM_001742.3:c.*18C>T | NP_001733.1:n.*18C>T | |
| NM_001164737.2:c.*18C>T | NP_001158209.2:n.*18C>T | |
| NM_001742.4:c.*18C>T MANE Select | NP_001733.1:n.*18C>T | |
| NM_001164737.3:c.*18C>T | NP_001158209.2:n.*18C>T | |
| NM_001164738.2:c.*18C>T | NP_001158210.1:n.*18C>T |