Linked Data
ClinVar Variation Id:
8712
dbSNP Id:
rs28936383
gnomAD v2:
4-52895065-G-C
gnomAD v3:
4-52028899-G-C
gnomAD v4:
4-52028899-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028899G>C , CM000666.2:g.52028899G>C | GRCh38 |
| NC_000004.11:g.52895065G>C , CM000666.1:g.52895065G>C | GRCh37 |
| NC_000004.10:g.52589822G>C | NCBI36 |
| NG_008891.1:g.14421C>G , LRG_204:g.14421C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381431.10:c.452C>G MANE Select | ENSP00000370839.6:p.Thr151Arg | |
| ENST00000381431.9:c.452C>G | ENSP00000370839.5:p.Thr151Arg | |
| ENST00000506357.5:c.535C>G | ||
| ENST00000514133.1:c.529C>G | ENSP00000425818.1:n.529C>G | |
| NM_000232.4:c.452C>G , LRG_204t1:c.452C>G | NP_000223.1:p.Thr151Arg | |
| XM_006714049.2:c.155C>G | XP_006714112.1:p.Thr52Arg | |
| XM_011534403.1:c.242C>G | XP_011532705.1:p.Thr81Arg | |
| XM_011534404.1:c.155C>G | XP_011532706.1:p.Thr52Arg | |
| NM_000232.5:c.452C>G MANE Select | NP_000223.1:p.Thr151Arg |