Linked Data
dbSNP Id:
rs757521506
ExAC:
8:61777765 C / T
gnomAD v2:
8-61777765-C-T
gnomAD v4:
8-60865206-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865206C>T , CM000670.2:g.60865206C>T | GRCh38 |
| NC_000008.10:g.61777765C>T , CM000670.1:g.61777765C>T | GRCh37 |
| NC_000008.9:g.61940319C>T | NCBI36 |
| NG_007009.1:g.191427C>T , LRG_176:g.191427C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1443C>T | ||
| ENST00000695852.1:n.374C>T | ||
| ENST00000695853.1:c.*1326C>T | ENSP00000512218.1:n.*1326C>T | |
| ENST00000423902.7:c.8267C>T MANE Select | ENSP00000392028.1:p.Thr2756Met | |
| ENST00000423902.6:c.8267C>T | ENSP00000392028.1:p.Thr2756Met | |
| ENST00000524602.5:c.2120C>T | ENSP00000437061.1:p.Thr707Met | |
| ENST00000528280.1:n.313C>T | ||
| NM_001316690.1:c.2120C>T | NP_001303619.1:p.Thr707Met | |
| NM_017780.3:c.8267C>T | NP_060250.2:p.Thr2756Met | |
| XM_011517553.1:c.8357C>T | XP_011515855.1:p.Thr2786Met | |
| XM_011517554.1:c.8357C>T | XP_011515856.1:p.Thr2786Met | |
| XM_011517555.1:c.8354C>T | XP_011515857.1:p.Thr2785Met | |
| XM_011517556.1:c.8135C>T | XP_011515858.1:p.Thr2712Met | |
| XM_011517557.1:c.6344C>T | XP_011515859.1:p.Thr2115Met | |
| XM_011517558.1:c.5894C>T | XP_011515860.1:p.Thr1965Met | |
| XM_011517559.1:c.5102C>T | XP_011515861.1:p.Thr1701Met | |
| XM_011517553.2:c.8357C>T | XP_011515855.1:p.Thr2786Met | |
| XM_011517554.3:c.8357C>T | XP_011515856.1:p.Thr2786Met | |
| XM_011517555.2:c.8354C>T | XP_011515857.1:p.Thr2785Met | |
| XM_017013612.1:c.8357C>T | XP_016869101.1:p.Thr2786Met | |
| XM_017013613.1:c.8264C>T | XP_016869102.1:p.Thr2755Met | |
| NM_017780.4:c.8267C>T MANE Select | NP_060250.2:p.Thr2756Met |