Linked Data
dbSNP Id:
rs372734206
ExAC:
10:69970318 C / T
gnomAD v2:
10-69970318-C-T
gnomAD v4:
10-68210561-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68210561C>T , CM000672.2:g.68210561C>T | GRCh38 |
| NC_000010.10:g.69970318C>T , CM000672.1:g.69970318C>T | GRCh37 |
| NC_000010.9:g.69640324C>T | NCBI36 |
| NG_032118.1:g.109445C>T , LRG_410:g.109445C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.*106C>T | ENSP00000346369.2:n.*106C>T | |
| ENST00000540630.6:c.*106C>T | ENSP00000441668.3:n.*106C>T | |
| ENST00000613327.5:c.*106C>T | ENSP00000480757.2:n.*106C>T | |
| ENST00000688812.1:c.*1332C>T | ENSP00000510658.1:n.*1332C>T | |
| ENST00000690544.1:c.*3340C>T | ENSP00000508989.1:n.*3340C>T | |
| ENST00000358913.10:c.*106C>T MANE Select | ENSP00000351790.5:n.*106C>T | |
| ENST00000354393.6:c.*106C>T | ENSP00000346369.2:n.*106C>T | |
| ENST00000358913.9:c.*106C>T | ENSP00000351790.5:n.*106C>T | |
| ENST00000540630.5:c.*106C>T | ENSP00000441668.2:n.*106C>T | |
| ENST00000613327.4:c.*106C>T | ENSP00000480757.1:n.*106C>T | |
| NM_001256267.1:c.*106C>T | NP_001243196.1:n.*106C>T | |
| NM_001256268.1:c.*106C>T | NP_001243197.1:n.*106C>T | |
| NM_032578.3:c.*106C>T , LRG_410t1:c.*106C>T | NP_115967.2:n.*106C>T | |
| NR_045662.3:n.3496C>T | ||
| NR_045663.3:n.4198C>T | ||
| XM_006718043.2:c.*106C>T | XP_006718106.1:n.*106C>T | |
| XM_011540292.1:c.*106C>T | XP_011538594.1:n.*106C>T | |
| XR_946029.1:n.1574+4727G>A | ||
| XM_017016833.1:c.*106C>T | XP_016872322.1:n.*106C>T | |
| XM_017016834.2:c.*106C>T | XP_016872323.1:n.*106C>T | |
| XM_024448236.1:c.*106C>T | XP_024304004.1:n.*106C>T | |
| NR_045662.4:n.3606C>T | ||
| NR_045663.4:n.4143C>T | ||
| NM_001256267.2:c.*106C>T | NP_001243196.1:n.*106C>T | |
| NM_001256268.2:c.*106C>T | NP_001243197.1:n.*106C>T | |
| NM_032578.4:c.*106C>T MANE Select | NP_115967.2:n.*106C>T |