Linked Data
ClinVar Variation Id:
2415594
ClinVar RCV Id:
RCV003104806
dbSNP Id:
rs1754064502
gnomAD v3:
5-159320331-G-C
gnomAD v4:
5-159320331-G-C
MyVariant Identifiers:
chr5:g.158747339G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320331G>C , CM000667.2:g.159320331G>C | GRCh38 |
| NC_000005.9:g.158747339G>C , CM000667.1:g.158747339G>C | GRCh37 |
| NC_000005.8:g.158679917G>C | NCBI36 |
| NG_009618.1:g.15143C>G , LRG_71:g.15143C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.42C>G | ENSP00000512849.1:p.Thr14= | |
| ENST00000696751.1:c.*167C>G | ENSP00000512850.1:n.*167C>G | |
| ENST00000231228.3:c.672C>G MANE Select | ENSP00000231228.2:p.Thr224= | |
| ENST00000231228.2:c.672C>G | ENSP00000231228.2:p.Thr224= | |
| NM_002187.2:c.672C>G , LRG_71t1:c.672C>G | NP_002178.2:p.Thr224= | |
| NM_002187.3:c.672C>G MANE Select | NP_002178.2:p.Thr224= |