MyVariant.info:
GRCh37
chr5:g.70942052C>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646225C>A , CM000667.2:g.71646225C>A | GRCh38 |
| NC_000005.9:g.70942052C>A , CM000667.1:g.70942052C>A | GRCh37 |
| NC_000005.8:g.70977808C>A | NCBI36 |
| NG_008882.1:g.63938C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2772C>A | ||
| ENST00000505787.8:n.2995C>A | ||
| ENST00000509539.3:c.490C>A | ENSP00000425474.3:n.490C>A | |
| ENST00000681968.1:c.657C>A | ENSP00000508143.1:p.Val219= | |
| ENST00000681991.1:n.1248C>A | ||
| ENST00000682045.1:c.1020C>A | ENSP00000507329.1:p.Val340= | |
| ENST00000682214.1:c.771C>A | ENSP00000507336.1:p.Val257= | |
| ENST00000682231.1:n.182C>A | ||
| ENST00000682438.1:n.3163C>A | ||
| ENST00000682499.1:n.1985C>A | ||
| ENST00000682541.1:c.*62C>A | ENSP00000507673.1:n.*62C>A | |
| ENST00000682640.1:n.868C>A | ||
| ENST00000682667.1:n.1329C>A | ||
| ENST00000682687.1:c.*116C>A | ENSP00000507945.1:n.*116C>A | |
| ENST00000682727.1:c.1155C>A | ENSP00000507393.1:p.Val385= | |
| ENST00000682876.1:c.1293C>A | ENSP00000508389.1:p.Val431= | |
| ENST00000683098.1:c.818C>A | ENSP00000507670.1:p.Ser273Tyr | |
| ENST00000683258.1:c.*885C>A | ENSP00000507448.1:n.*885C>A | |
| ENST00000683339.1:c.948C>A | ENSP00000507758.1:p.Val316= | |
| ENST00000683403.1:c.1074C>A | ENSP00000507896.1:p.Val358= | |
| ENST00000683429.1:c.771C>A | ENSP00000507697.1:p.Val257= | |
| ENST00000683789.1:c.1050C>A | ENSP00000507012.1:p.Val350= | |
| ENST00000683847.1:n.1334C>A | ||
| ENST00000683882.1:c.*105C>A | ENSP00000506735.1:n.*105C>A | |
| ENST00000684024.1:c.*835C>A | ENSP00000507175.1:n.*835C>A | |
| ENST00000684132.1:c.92C>A | ||
| ENST00000684254.1:c.*890C>A | ENSP00000508001.1:n.*890C>A | |
| ENST00000684310.1:c.330C>A | ENSP00000507550.1:p.Val110= | |
| ENST00000684316.1:n.2C>A | ||
| ENST00000684474.1:n.800C>A | ||
| ENST00000684530.1:c.335-2872C>A | ENSP00000507439.1:n.335-2872C>A | |
| ENST00000684686.1:n.783C>A | ||
| ENST00000340941.11:c.1164C>A MANE Select | ENSP00000343657.6:p.Val388= | |
| ENST00000340941.10:c.1164C>A | ENSP00000343657.6:p.Val388= | |
| ENST00000509539.2:c.480C>A | ENSP00000425474.2:p.Val160= | |
| ENST00000512218.6:c.*116C>A | ENSP00000423202.2:n.*116C>A | |
| NM_022132.4:c.1164C>A | NP_071415.1:p.Val388= | |
| XM_005248567.1:c.1050C>A | XP_005248624.1:p.Val350= | |
| NM_001363147.1:c.1050C>A | NP_001350076.1:p.Val350= | |
| XR_001742172.1:n.1252C>A | ||
| NM_022132.5:c.1164C>A MANE Select | NP_071415.1:p.Val388= |