Linked Data
ClinVar Variation Id:
1524591
ClinVar RCV Id:
RCV002031833
dbSNP Id:
rs2112437351
COSMIC:
COSM4794970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71634950G>A , CM000667.2:g.71634950G>A | GRCh38 |
| NC_000005.9:g.70930777G>A , CM000667.1:g.70930777G>A | GRCh37 |
| NC_000005.8:g.70966533G>A | NCBI36 |
| NG_008882.1:g.52663G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.767G>A | ||
| ENST00000505787.8:n.2651G>A | ||
| ENST00000509358.7:c.811G>A | ENSP00000420994.3:p.Gly271Arg | |
| ENST00000509539.3:c.73G>A | ENSP00000425474.3:p.Gly25Arg | |
| ENST00000510895.7:n.934G>A | ||
| ENST00000629193.3:c.697G>A | ENSP00000486535.2:p.Gly233Arg | |
| ENST00000681968.1:c.304G>A | ENSP00000508143.1:p.Gly102Arg | |
| ENST00000682045.1:c.667G>A | ENSP00000507329.1:p.Gly223Arg | |
| ENST00000682214.1:c.418G>A | ENSP00000507336.1:p.Gly140Arg | |
| ENST00000682499.1:n.1632G>A | ||
| ENST00000682541.1:c.811G>A | ENSP00000507673.1:p.Gly271Arg | |
| ENST00000682687.1:c.811G>A | ENSP00000507945.1:p.Gly271Arg | |
| ENST00000682727.1:c.811G>A | ENSP00000507393.1:p.Gly271Arg | |
| ENST00000682876.1:c.940G>A | ENSP00000508389.1:p.Gly314Arg | |
| ENST00000683098.1:c.803+2765G>A | ENSP00000507670.1:n.803+2765G>A | |
| ENST00000683258.1:c.*532G>A | ENSP00000507448.1:n.*532G>A | |
| ENST00000683339.1:c.595G>A | ENSP00000507758.1:p.Gly199Arg | |
| ENST00000683403.1:c.811G>A | ENSP00000507896.1:p.Gly271Arg | |
| ENST00000683429.1:c.418G>A | ENSP00000507697.1:p.Gly140Arg | |
| ENST00000683665.1:c.811G>A | ENSP00000507068.1:p.Gly271Arg | |
| ENST00000683789.1:c.697G>A | ENSP00000507012.1:p.Gly233Arg | |
| ENST00000683847.1:n.655G>A | ||
| ENST00000683882.1:c.811G>A | ENSP00000506735.1:p.Gly271Arg | |
| ENST00000684024.1:c.*482G>A | ENSP00000507175.1:n.*482G>A | |
| ENST00000684254.1:c.*537G>A | ENSP00000508001.1:n.*537G>A | |
| ENST00000684310.1:c.73G>A | ENSP00000507550.1:p.Gly25Arg | |
| ENST00000684530.1:c.73G>A | ENSP00000507439.1:p.Gly25Arg | |
| ENST00000684652.1:n.1813G>A | ||
| ENST00000340941.11:c.811G>A MANE Select | ENSP00000343657.6:p.Gly271Arg | |
| ENST00000340941.10:c.811G>A | ENSP00000343657.6:p.Gly271Arg | |
| ENST00000505435.3:n.162G>A | ||
| ENST00000505787.7:n.625G>A | ||
| ENST00000509358.6:c.811G>A | ENSP00000420994.2:p.Gly271Arg | |
| ENST00000509539.2:c.136G>A | ENSP00000425474.2:p.Gly46Arg | |
| ENST00000510895.6:n.425G>A | ||
| ENST00000512218.6:c.697G>A | ENSP00000423202.2:p.Gly233Arg | |
| ENST00000629193.2:c.697G>A | ENSP00000486535.1:p.Gly233Arg | |
| NM_022132.4:c.811G>A | NP_071415.1:p.Gly271Arg | |
| XM_005248567.1:c.697G>A | XP_005248624.1:p.Gly233Arg | |
| XM_011543528.1:c.811G>A | XP_011541830.1:p.Gly271Arg | |
| XM_011543529.1:c.811G>A | XP_011541831.1:p.Gly271Arg | |
| NM_001363147.1:c.697G>A | NP_001350076.1:p.Gly233Arg | |
| XM_011543529.2:c.811G>A | XP_011541831.1:p.Gly271Arg | |
| XM_017009688.1:c.811G>A | XP_016865177.1:p.Gly271Arg | |
| XR_001742172.1:n.851G>A | ||
| NM_022132.5:c.811G>A MANE Select | NP_071415.1:p.Gly271Arg |