Linked Data
ClinVar Variation Id:
363481
dbSNP Id:
rs761409446
ExAC:
8:61777711 C / T
gnomAD v2:
8-61777711-C-T
gnomAD v3:
8-60865152-C-T
gnomAD v4:
8-60865152-C-T
COSMIC:
COSM2720160
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865152C>T , CM000670.2:g.60865152C>T | GRCh38 |
| NC_000008.10:g.61777711C>T , CM000670.1:g.61777711C>T | GRCh37 |
| NC_000008.9:g.61940265C>T | NCBI36 |
| NG_007009.1:g.191373C>T , LRG_176:g.191373C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1389C>T | ||
| ENST00000695852.1:n.320C>T | ||
| ENST00000695853.1:c.*1272C>T | ENSP00000512218.1:n.*1272C>T | |
| ENST00000423902.7:c.8213C>T MANE Select | ENSP00000392028.1:p.Thr2738Met | |
| ENST00000423902.6:c.8213C>T | ENSP00000392028.1:p.Thr2738Met | |
| ENST00000524602.5:c.2066C>T | ENSP00000437061.1:p.Thr689Met | |
| ENST00000528280.1:n.259C>T | ||
| NM_001316690.1:c.2066C>T | NP_001303619.1:p.Thr689Met | |
| NM_017780.3:c.8213C>T | NP_060250.2:p.Thr2738Met | |
| XM_011517553.1:c.8303C>T | XP_011515855.1:p.Thr2768Met | |
| XM_011517554.1:c.8303C>T | XP_011515856.1:p.Thr2768Met | |
| XM_011517555.1:c.8300C>T | XP_011515857.1:p.Thr2767Met | |
| XM_011517556.1:c.8081C>T | XP_011515858.1:p.Thr2694Met | |
| XM_011517557.1:c.6290C>T | XP_011515859.1:p.Thr2097Met | |
| XM_011517558.1:c.5840C>T | XP_011515860.1:p.Thr1947Met | |
| XM_011517559.1:c.5048C>T | XP_011515861.1:p.Thr1683Met | |
| XM_011517553.2:c.8303C>T | XP_011515855.1:p.Thr2768Met | |
| XM_011517554.3:c.8303C>T | XP_011515856.1:p.Thr2768Met | |
| XM_011517555.2:c.8300C>T | XP_011515857.1:p.Thr2767Met | |
| XM_017013612.1:c.8303C>T | XP_016869101.1:p.Thr2768Met | |
| XM_017013613.1:c.8210C>T | XP_016869102.1:p.Thr2737Met | |
| NM_017780.4:c.8213C>T MANE Select | NP_060250.2:p.Thr2738Met |