Linked Data
ClinVar Variation Id:
522235
dbSNP Id:
rs138354021
ExAC:
10:69925568 C / T
gnomAD v2:
10-69925568-C-T
gnomAD v3:
10-68165811-C-T
gnomAD v4:
10-68165811-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68165811C>T , CM000672.2:g.68165811C>T | GRCh38 |
| NC_000010.10:g.69925568C>T , CM000672.1:g.69925568C>T | GRCh37 |
| NC_000010.9:g.69595574C>T | NCBI36 |
| NG_032118.1:g.64695C>T , LRG_410:g.64695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.768C>T | ENSP00000346369.2:p.His256= | |
| ENST00000373675.4:c.1593C>T | ENSP00000362779.4:p.His531= | |
| ENST00000540630.6:c.1647C>T | ENSP00000441668.3:p.His549= | |
| ENST00000613327.5:c.1593C>T | ENSP00000480757.2:p.His531= | |
| ENST00000687572.1:c.471C>T | ENSP00000510427.1:p.His157= | |
| ENST00000687705.1:c.*1842C>T | ENSP00000509639.1:n.*1842C>T | |
| ENST00000688812.1:c.1569C>T | ENSP00000510658.1:p.His523= | |
| ENST00000689002.1:n.645C>T | ||
| ENST00000690544.1:c.*864C>T | ENSP00000508989.1:n.*864C>T | |
| ENST00000358913.10:c.1593C>T MANE Select | ENSP00000351790.5:p.His531= | |
| ENST00000354393.6:c.768C>T | ENSP00000346369.2:p.His256= | |
| ENST00000358913.9:c.1593C>T | ENSP00000351790.5:p.His531= | |
| ENST00000540630.5:c.1593C>T | ENSP00000441668.2:p.His531= | |
| ENST00000613327.4:c.711C>T | ENSP00000480757.1:p.His237= | |
| NM_001256267.1:c.1593C>T | NP_001243196.1:p.His531= | |
| NM_001256268.1:c.711C>T | NP_001243197.1:p.His237= | |
| NM_032578.3:c.1593C>T , LRG_410t1:c.1593C>T | NP_115967.2:p.His531= | |
| NR_045662.3:n.1020C>T | ||
| NR_045663.3:n.1861C>T | ||
| XM_006718043.2:c.1647C>T | XP_006718106.1:p.His549= | |
| XM_011540292.1:c.1623C>T | XP_011538594.1:p.His541= | |
| XM_017016833.1:c.1671C>T | XP_016872322.1:p.His557= | |
| XM_017016834.2:c.1593C>T | XP_016872323.1:p.His531= | |
| XM_024448236.1:c.471C>T | XP_024304004.1:p.His157= | |
| NR_045662.4:n.1130C>T | ||
| NR_045663.4:n.1806C>T | ||
| NM_001256267.2:c.1593C>T | NP_001243196.1:p.His531= | |
| NM_001256268.2:c.711C>T | NP_001243197.1:p.His237= | |
| NM_032578.4:c.1593C>T MANE Select | NP_115967.2:p.His531= |