Linked Data
dbSNP Id:
rs184718561
ExAC:
11:111887493 C / T
gnomAD v2:
11-111887493-C-T
gnomAD v3:
11-112016769-C-T
gnomAD v4:
11-112016769-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112016769C>T , CM000673.2:g.112016769C>T | GRCh38 |
| NC_000011.9:g.111887493C>T , CM000673.1:g.111887493C>T | GRCh37 |
| NC_000011.8:g.111392703C>T | NCBI36 |
| NG_033127.1:g.94627C>T | |
| NG_033127.2:g.94626C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440460.7:c.1835C>T MANE Select | ENSP00000394352.3:p.Thr612Met | |
| ENST00000440460.6:c.1835C>T | ENSP00000394352.3:p.Thr612Met | |
| ENST00000526500.5:n.831C>T | ||
| ENST00000615255.1:c.1202C>T | ENSP00000480808.1:p.Thr401Met | |
| ENST00000618522.4:n.1188C>T | ||
| NM_001037954.3:c.1835C>T | NP_001033043.1:p.Thr612Met | |
| NM_033425.4:c.1202C>T | NP_219493.1:p.Thr401Met | |
| XM_005277726.3:c.1835C>T | XP_005277783.1:p.Thr612Met | |
| XM_005277727.3:c.1832C>T | XP_005277784.1:p.Thr611Met | |
| XM_005277728.3:c.1202C>T | XP_005277785.1:p.Thr401Met | |
| XM_011543045.1:c.953C>T | XP_011541347.1:p.Thr318Met | |
| XM_011543046.1:c.947C>T | XP_011541348.1:p.Thr316Met | |
| XM_017018466.2:c.1832C>T | XP_016873955.1:p.Thr611Met | |
| XM_017018467.1:c.1832C>T | XP_016873956.1:p.Thr611Met | |
| XM_017018468.1:c.953C>T | XP_016873957.1:p.Thr318Met | |
| XM_017018469.1:c.947C>T | XP_016873958.1:p.Thr316Met | |
| XM_024448742.1:c.1727C>T | XP_024304510.1:p.Thr576Met | |
| XM_024448743.1:c.1724C>T | XP_024304511.1:p.Thr575Met | |
| NM_001037954.4:c.1835C>T MANE Select | NP_001033043.1:p.Thr612Met | |
| NM_033425.5:c.1202C>T | NP_219493.1:p.Thr401Met |