Linked Data
ClinVar Variation Id:
2965424
ClinVar RCV Id:
RCV003823590
MyVariant Identifiers:
chr5:g.70931040T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71635213T>G , CM000667.2:g.71635213T>G | GRCh38 |
| NC_000005.9:g.70931040T>G , CM000667.1:g.70931040T>G | GRCh37 |
| NC_000005.8:g.70966796T>G | NCBI36 |
| NG_008882.1:g.52926T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.922T>G | ||
| ENST00000505787.8:n.2806T>G | ||
| ENST00000509358.7:c.966T>G | ENSP00000420994.3:p.Gly322= | |
| ENST00000509539.3:c.228T>G | ENSP00000425474.3:p.Gly76= | |
| ENST00000510895.7:n.1089T>G | ||
| ENST00000629193.3:c.852T>G | ENSP00000486535.2:p.Gly284= | |
| ENST00000681968.1:c.459T>G | ENSP00000508143.1:p.Gly153= | |
| ENST00000682045.1:c.822T>G | ENSP00000507329.1:p.Gly274= | |
| ENST00000682214.1:c.573T>G | ENSP00000507336.1:p.Gly191= | |
| ENST00000682499.1:n.1787T>G | ||
| ENST00000682541.1:c.966T>G | ENSP00000507673.1:p.Gly322= | |
| ENST00000682687.1:c.966T>G | ENSP00000507945.1:p.Gly322= | |
| ENST00000682727.1:c.966T>G | ENSP00000507393.1:p.Gly322= | |
| ENST00000682876.1:c.1095T>G | ENSP00000508389.1:p.Gly365= | |
| ENST00000683098.1:c.803+3028T>G | ENSP00000507670.1:n.803+3028T>G | |
| ENST00000683258.1:c.*687T>G | ENSP00000507448.1:n.*687T>G | |
| ENST00000683339.1:c.750T>G | ENSP00000507758.1:p.Gly250= | |
| ENST00000683403.1:c.876T>G | ENSP00000507896.1:p.Gly292= | |
| ENST00000683429.1:c.573T>G | ENSP00000507697.1:p.Gly191= | |
| ENST00000683665.1:c.966T>G | ENSP00000507068.1:p.Gly322= | |
| ENST00000683789.1:c.852T>G | ENSP00000507012.1:p.Gly284= | |
| ENST00000683847.1:n.810T>G | ||
| ENST00000683882.1:c.966T>G | ENSP00000506735.1:p.Gly322= | |
| ENST00000684024.1:c.*637T>G | ENSP00000507175.1:n.*637T>G | |
| ENST00000684254.1:c.*692T>G | ENSP00000508001.1:n.*692T>G | |
| ENST00000684310.1:c.165+171T>G | ENSP00000507550.1:n.165+171T>G | |
| ENST00000684530.1:c.228T>G | ENSP00000507439.1:p.Gly76= | |
| ENST00000684652.1:n.1968T>G | ||
| ENST00000340941.11:c.966T>G MANE Select | ENSP00000343657.6:p.Gly322= | |
| ENST00000340941.10:c.966T>G | ENSP00000343657.6:p.Gly322= | |
| ENST00000505435.3:n.317T>G | ||
| ENST00000509358.6:c.966T>G | ENSP00000420994.2:p.Gly322= | |
| ENST00000509539.2:c.291T>G | ENSP00000425474.2:p.Gly97= | |
| ENST00000510895.6:n.580T>G | ||
| ENST00000512218.6:c.852T>G | ENSP00000423202.2:p.Gly284= | |
| ENST00000629193.2:c.852T>G | ENSP00000486535.1:p.Gly284= | |
| NM_022132.4:c.966T>G | NP_071415.1:p.Gly322= | |
| XM_005248567.1:c.852T>G | XP_005248624.1:p.Gly284= | |
| XM_011543528.1:c.966T>G | XP_011541830.1:p.Gly322= | |
| XM_011543529.1:c.966T>G | XP_011541831.1:p.Gly322= | |
| NM_001363147.1:c.852T>G | NP_001350076.1:p.Gly284= | |
| XM_011543529.2:c.966T>G | XP_011541831.1:p.Gly322= | |
| XM_017009688.1:c.966T>G | XP_016865177.1:p.Gly322= | |
| XR_001742172.1:n.1006T>G | ||
| NM_022132.5:c.966T>G MANE Select | NP_071415.1:p.Gly322= |