Linked Data
ClinVar Variation Id:
904116
ClinVar RCV Id:
RCV001151839
dbSNP Id:
rs3213120
gnomAD v2:
5-158743108-C-T
gnomAD v3:
5-159316100-C-T
gnomAD v4:
5-159316100-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159316100C>T , CM000667.2:g.159316100C>T | GRCh38 |
| NC_000005.9:g.158743108C>T , CM000667.1:g.158743108C>T | GRCh37 |
| NC_000005.8:g.158675686C>T | NCBI36 |
| NG_009618.1:g.19374G>A , LRG_71:g.19374G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.*1G>A | ENSP00000512849.1:n.*1G>A | |
| ENST00000696751.1:c.*483G>A | ENSP00000512850.1:n.*483G>A | |
| ENST00000231228.3:c.*1G>A MANE Select | ENSP00000231228.2:n.*1G>A | |
| ENST00000231228.2:c.*1G>A | ENSP00000231228.2:n.*1G>A | |
| NM_002187.2:c.*1G>A , LRG_71t1:c.*1G>A | NP_002178.2:n.*1G>A | |
| NM_002187.3:c.*1G>A MANE Select | NP_002178.2:n.*1G>A |