Linked Data
ClinVar Variation Id:
2778259
ClinVar RCV Id:
RCV003619890
dbSNP Id:
rs773203081
ExAC:
4:52895901 T / C
gnomAD v2:
4-52895901-T-C
gnomAD v4:
4-52029735-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029735T>C , CM000666.2:g.52029735T>C | GRCh38 |
| NC_000004.11:g.52895901T>C , CM000666.1:g.52895901T>C | GRCh37 |
| NC_000004.10:g.52590658T>C | NCBI36 |
| NG_008891.1:g.13585A>G , LRG_204:g.13585A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.372A>G MANE Select | ENSP00000370839.6:p.Lys124= | |
| ENST00000381431.9:c.372A>G | ENSP00000370839.5:p.Lys124= | |
| ENST00000506357.5:c.455A>G | ||
| ENST00000514133.1:c.449A>G | ENSP00000425818.1:n.449A>G | |
| NM_000232.4:c.372A>G , LRG_204t1:c.372A>G | NP_000223.1:p.Lys124= | |
| XM_006714049.2:c.75A>G | XP_006714112.1:p.Lys25= | |
| XM_011534403.1:c.162A>G | XP_011532705.1:p.Lys54= | |
| XM_011534404.1:c.75A>G | XP_011532706.1:p.Lys25= | |
| NM_000232.5:c.372A>G MANE Select | NP_000223.1:p.Lys124= |