MyVariant.info:
GRCh37
chr5:g.70942046C>T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646219C>T , CM000667.2:g.71646219C>T | GRCh38 |
| NC_000005.9:g.70942046C>T , CM000667.1:g.70942046C>T | GRCh37 |
| NC_000005.8:g.70977802C>T | NCBI36 |
| NG_008882.1:g.63932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2766C>T | ||
| ENST00000505787.8:n.2989C>T | ||
| ENST00000509539.3:c.484C>T | ENSP00000425474.3:n.484C>T | |
| ENST00000681968.1:c.651C>T | ENSP00000508143.1:p.His217= | |
| ENST00000681991.1:n.1242C>T | ||
| ENST00000682045.1:c.1014C>T | ENSP00000507329.1:p.His338= | |
| ENST00000682214.1:c.765C>T | ENSP00000507336.1:p.His255= | |
| ENST00000682231.1:n.176C>T | ||
| ENST00000682438.1:n.3157C>T | ||
| ENST00000682499.1:n.1979C>T | ||
| ENST00000682541.1:c.*56C>T | ENSP00000507673.1:n.*56C>T | |
| ENST00000682640.1:n.862C>T | ||
| ENST00000682667.1:n.1323C>T | ||
| ENST00000682687.1:c.*110C>T | ENSP00000507945.1:n.*110C>T | |
| ENST00000682727.1:c.1149C>T | ENSP00000507393.1:p.His383= | |
| ENST00000682876.1:c.1287C>T | ENSP00000508389.1:p.His429= | |
| ENST00000683098.1:c.812C>T | ENSP00000507670.1:p.Thr271Ile | |
| ENST00000683258.1:c.*879C>T | ENSP00000507448.1:n.*879C>T | |
| ENST00000683339.1:c.942C>T | ENSP00000507758.1:p.His314= | |
| ENST00000683403.1:c.1068C>T | ENSP00000507896.1:p.His356= | |
| ENST00000683429.1:c.765C>T | ENSP00000507697.1:p.His255= | |
| ENST00000683789.1:c.1044C>T | ENSP00000507012.1:p.His348= | |
| ENST00000683847.1:n.1328C>T | ||
| ENST00000683882.1:c.*99C>T | ENSP00000506735.1:n.*99C>T | |
| ENST00000684024.1:c.*829C>T | ENSP00000507175.1:n.*829C>T | |
| ENST00000684132.1:c.86C>T | ||
| ENST00000684254.1:c.*884C>T | ENSP00000508001.1:n.*884C>T | |
| ENST00000684310.1:c.324C>T | ENSP00000507550.1:p.His108= | |
| ENST00000684474.1:n.794C>T | ||
| ENST00000684530.1:c.335-2878C>T | ENSP00000507439.1:n.335-2878C>T | |
| ENST00000684686.1:n.777C>T | ||
| ENST00000340941.11:c.1158C>T MANE Select | ENSP00000343657.6:p.His386= | |
| ENST00000340941.10:c.1158C>T | ENSP00000343657.6:p.His386= | |
| ENST00000509539.2:c.474C>T | ENSP00000425474.2:p.His158= | |
| ENST00000512218.6:c.*110C>T | ENSP00000423202.2:n.*110C>T | |
| NM_022132.4:c.1158C>T | NP_071415.1:p.His386= | |
| XM_005248567.1:c.1044C>T | XP_005248624.1:p.His348= | |
| NM_001363147.1:c.1044C>T | NP_001350076.1:p.His348= | |
| XR_001742172.1:n.1246C>T | ||
| NM_022132.5:c.1158C>T MANE Select | NP_071415.1:p.His386= |