Linked Data
ClinVar Variation Id:
1936054
ClinVar RCV Id:
RCV002642467
dbSNP Id:
rs934330712
gnomAD v2:
5-158743715-C-A
gnomAD v4:
5-159316707-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159316707C>A , CM000667.2:g.159316707C>A | GRCh38 |
| NC_000005.9:g.158743715C>A , CM000667.1:g.158743715C>A | GRCh37 |
| NC_000005.8:g.158676293C>A | NCBI36 |
| NG_009618.1:g.18767G>T , LRG_71:g.18767G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.335G>T | ENSP00000512849.1:p.Trp112Leu | |
| ENST00000696751.1:c.*460G>T | ENSP00000512850.1:n.*460G>T | |
| ENST00000231228.3:c.965G>T MANE Select | ENSP00000231228.2:p.Trp322Leu | |
| ENST00000231228.2:c.965G>T | ENSP00000231228.2:p.Trp322Leu | |
| NM_002187.2:c.965G>T , LRG_71t1:c.965G>T | NP_002178.2:p.Trp322Leu | |
| NM_002187.3:c.965G>T MANE Select | NP_002178.2:p.Trp322Leu |