MyVariant.info:
GRCh37
chr5:g.70942043T>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646216T>C , CM000667.2:g.71646216T>C | GRCh38 |
| NC_000005.9:g.70942043T>C , CM000667.1:g.70942043T>C | GRCh37 |
| NC_000005.8:g.70977799T>C | NCBI36 |
| NG_008882.1:g.63929T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2763T>C | ||
| ENST00000505787.8:n.2986T>C | ||
| ENST00000509539.3:c.481T>C | ENSP00000425474.3:n.481T>C | |
| ENST00000681968.1:c.648T>C | ENSP00000508143.1:p.Thr216= | |
| ENST00000681991.1:n.1239T>C | ||
| ENST00000682045.1:c.1011T>C | ENSP00000507329.1:p.Thr337= | |
| ENST00000682214.1:c.762T>C | ENSP00000507336.1:p.Thr254= | |
| ENST00000682231.1:n.173T>C | ||
| ENST00000682438.1:n.3154T>C | ||
| ENST00000682499.1:n.1976T>C | ||
| ENST00000682541.1:c.*53T>C | ENSP00000507673.1:n.*53T>C | |
| ENST00000682640.1:n.859T>C | ||
| ENST00000682667.1:n.1320T>C | ||
| ENST00000682687.1:c.*107T>C | ENSP00000507945.1:n.*107T>C | |
| ENST00000682727.1:c.1146T>C | ENSP00000507393.1:p.Thr382= | |
| ENST00000682876.1:c.1284T>C | ENSP00000508389.1:p.Thr428= | |
| ENST00000683098.1:c.809T>C | ENSP00000507670.1:p.Leu270Pro | |
| ENST00000683258.1:c.*876T>C | ENSP00000507448.1:n.*876T>C | |
| ENST00000683339.1:c.939T>C | ENSP00000507758.1:p.Thr313= | |
| ENST00000683403.1:c.1065T>C | ENSP00000507896.1:p.Thr355= | |
| ENST00000683429.1:c.762T>C | ENSP00000507697.1:p.Thr254= | |
| ENST00000683789.1:c.1041T>C | ENSP00000507012.1:p.Thr347= | |
| ENST00000683847.1:n.1325T>C | ||
| ENST00000683882.1:c.*96T>C | ENSP00000506735.1:n.*96T>C | |
| ENST00000684024.1:c.*826T>C | ENSP00000507175.1:n.*826T>C | |
| ENST00000684132.1:c.83T>C | ||
| ENST00000684254.1:c.*881T>C | ENSP00000508001.1:n.*881T>C | |
| ENST00000684310.1:c.321T>C | ENSP00000507550.1:p.Thr107= | |
| ENST00000684474.1:n.791T>C | ||
| ENST00000684530.1:c.335-2881T>C | ENSP00000507439.1:n.335-2881T>C | |
| ENST00000684686.1:n.774T>C | ||
| ENST00000340941.11:c.1155T>C MANE Select | ENSP00000343657.6:p.Thr385= | |
| ENST00000340941.10:c.1155T>C | ENSP00000343657.6:p.Thr385= | |
| ENST00000509539.2:c.471T>C | ENSP00000425474.2:p.Thr157= | |
| ENST00000512218.6:c.*107T>C | ENSP00000423202.2:n.*107T>C | |
| NM_022132.4:c.1155T>C | NP_071415.1:p.Thr385= | |
| XM_005248567.1:c.1041T>C | XP_005248624.1:p.Thr347= | |
| NM_001363147.1:c.1041T>C | NP_001350076.1:p.Thr347= | |
| XR_001742172.1:n.1243T>C | ||
| NM_022132.5:c.1155T>C MANE Select | NP_071415.1:p.Thr385= |