Linked Data
ClinVar Variation Id:
337481
ClinVar RCV Id:
RCV000381771
dbSNP Id:
rs886056440
gnomAD v2:
2-96917926-G-A
gnomAD v3:
2-96252188-G-A
gnomAD v4:
2-96252188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96252188G>A , CM000664.2:g.96252188G>A | GRCh38 |
| NC_000002.11:g.96917926G>A , CM000664.1:g.96917926G>A | GRCh37 |
| NC_000002.10:g.96281653G>A | NCBI36 |
| NG_027695.1:g.18826C>T , LRG_528:g.18826C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*1620C>T MANE Select | ENSP00000258439.3:n.*1620C>T | |
| ENST00000258439.7:c.*1620C>T | ENSP00000258439.2:n.*1620C>T | |
| ENST00000432959.1:c.*1620C>T | ENSP00000416660.1:n.*1620C>T | |
| NM_001193304.2:c.*1620C>T | NP_001180233.1:n.*1620C>T | |
| NM_017849.3:c.*1620C>T , LRG_528t1:c.*1620C>T | NP_060319.1:n.*1620C>T | |
| XM_017004450.1:c.*921C>T | XP_016859939.1:n.*921C>T | |
| XM_017004452.1:c.*1620C>T | XP_016859941.1:n.*1620C>T | |
| NM_001193304.3:c.*1620C>T | NP_001180233.1:n.*1620C>T | |
| NM_017849.4:c.*1620C>T MANE Select | NP_060319.1:n.*1620C>T |