Linked Data
dbSNP Id:
rs748821156
ExAC:
10:69926361 A / T
gnomAD v2:
10-69926361-A-T
gnomAD v4:
10-68166604-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68166604A>T , CM000672.2:g.68166604A>T | GRCh38 |
| NC_000010.10:g.69926361A>T , CM000672.1:g.69926361A>T | GRCh37 |
| NC_000010.9:g.69596367A>T | NCBI36 |
| NG_032118.1:g.65488A>T , LRG_410:g.65488A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.1086A>T | ENSP00000346369.2:p.Thr362= | |
| ENST00000373675.4:c.1911A>T | ENSP00000362779.4:p.Thr637= | |
| ENST00000540630.6:c.1965A>T | ENSP00000441668.3:p.Thr655= | |
| ENST00000613327.5:c.1911A>T | ENSP00000480757.2:p.Thr637= | |
| ENST00000687572.1:c.789A>T | ENSP00000510427.1:p.Thr263= | |
| ENST00000688812.1:c.1887A>T | ENSP00000510658.1:p.Thr629= | |
| ENST00000690544.1:c.*1182A>T | ENSP00000508989.1:n.*1182A>T | |
| ENST00000358913.10:c.1911A>T MANE Select | ENSP00000351790.5:p.Thr637= | |
| ENST00000354393.6:c.1086A>T | ENSP00000346369.2:p.Thr362= | |
| ENST00000358913.9:c.1911A>T | ENSP00000351790.5:p.Thr637= | |
| ENST00000540630.5:c.1911A>T | ENSP00000441668.2:p.Thr637= | |
| ENST00000613327.4:c.1029A>T | ENSP00000480757.1:p.Thr343= | |
| NM_001256267.1:c.1911A>T | NP_001243196.1:p.Thr637= | |
| NM_001256268.1:c.1029A>T | NP_001243197.1:p.Thr343= | |
| NM_032578.3:c.1911A>T , LRG_410t1:c.1911A>T | NP_115967.2:p.Thr637= | |
| NR_045662.3:n.1338A>T | ||
| NR_045663.3:n.2179A>T | ||
| XM_006718043.2:c.1965A>T | XP_006718106.1:p.Thr655= | |
| XM_011540292.1:c.1941A>T | XP_011538594.1:p.Thr647= | |
| XM_017016833.1:c.1989A>T | XP_016872322.1:p.Thr663= | |
| XM_017016834.2:c.1911A>T | XP_016872323.1:p.Thr637= | |
| XM_024448236.1:c.789A>T | XP_024304004.1:p.Thr263= | |
| NR_045662.4:n.1448A>T | ||
| NR_045663.4:n.2124A>T | ||
| NM_001256267.2:c.1911A>T | NP_001243196.1:p.Thr637= | |
| NM_001256268.2:c.1029A>T | NP_001243197.1:p.Thr343= | |
| NM_032578.4:c.1911A>T MANE Select | NP_115967.2:p.Thr637= |