Linked Data
ClinVar Variation Id:
285260
dbSNP Id:
rs752168132
ExAC:
4:52895927 T / C
gnomAD v2:
4-52895927-T-C
gnomAD v4:
4-52029761-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029761T>C , CM000666.2:g.52029761T>C | GRCh38 |
| NC_000004.11:g.52895927T>C , CM000666.1:g.52895927T>C | GRCh37 |
| NC_000004.10:g.52590684T>C | NCBI36 |
| NG_008891.1:g.13559A>G , LRG_204:g.13559A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.346A>G MANE Select | ENSP00000370839.6:p.Met116Val | |
| ENST00000381431.9:c.346A>G | ENSP00000370839.5:p.Met116Val | |
| ENST00000506357.5:c.429A>G | ||
| ENST00000514133.1:c.423A>G | ENSP00000425818.1:n.423A>G | |
| NM_000232.4:c.346A>G , LRG_204t1:c.346A>G | NP_000223.1:p.Met116Val | |
| XM_006714049.2:c.49A>G | XP_006714112.1:p.Met17Val | |
| XM_011534403.1:c.136A>G | XP_011532705.1:p.Met46Val | |
| XM_011534404.1:c.49A>G | XP_011532706.1:p.Met17Val | |
| NM_000232.5:c.346A>G MANE Select | NP_000223.1:p.Met116Val |