Linked Data
ClinVar Variation Id:
1130886
ClinVar RCV Id:
RCV001464588
dbSNP Id:
rs2113030463
MyVariant Identifiers:
chr5:g.158750282G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323274G>A , CM000667.2:g.159323274G>A | GRCh38 |
| NC_000005.9:g.158750282G>A , CM000667.1:g.158750282G>A | GRCh37 |
| NC_000005.8:g.158682860G>A | NCBI36 |
| NG_009618.1:g.12200C>T , LRG_71:g.12200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-2754C>T | ENSP00000512849.1:n.-148-2754C>T | |
| ENST00000696751.1:c.144C>T | ENSP00000512850.1:p.Leu48= | |
| ENST00000231228.3:c.144C>T MANE Select | ENSP00000231228.2:p.Leu48= | |
| ENST00000231228.2:c.144C>T | ENSP00000231228.2:p.Leu48= | |
| NM_002187.2:c.144C>T , LRG_71t1:c.144C>T | NP_002178.2:p.Leu48= | |
| XR_001742945.1:n.148-2260G>A | ||
| NM_002187.3:c.144C>T MANE Select | NP_002178.2:p.Leu48= |