Linked Data
ClinVar Variation Id:
2936605
ClinVar RCV Id:
RCV003798843
dbSNP Id:
rs1755022819
gnomAD v4:
5-149977979-A-G
MyVariant Identifiers:
chr5:g.149357542A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977979A>G , CM000667.2:g.149977979A>G | GRCh38 |
| NC_000005.9:g.149357542A>G , CM000667.1:g.149357542A>G | GRCh37 |
| NC_000005.8:g.149337735A>G | NCBI36 |
| NG_007147.2:g.19097A>G , LRG_684:g.19097A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.559A>G | ||
| ENST00000286298.5:c.327A>G MANE Select | ENSP00000286298.4:p.Leu109= | |
| ENST00000286298.4:c.327A>G | ENSP00000286298.4:p.Leu109= | |
| NM_000112.3:c.327A>G , LRG_684t1:c.327A>G | NP_000103.2:p.Leu109= | |
| XM_017009191.2:c.327A>G | XP_016864680.1:p.Leu109= | |
| NM_000112.4:c.327A>G MANE Select | NP_000103.2:p.Leu109= |