Linked Data
dbSNP Id:
rs764927541
ExAC:
5:70931053 A / G
gnomAD v2:
5-70931053-A-G
gnomAD v4:
5-71635226-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71635226A>G , CM000667.2:g.71635226A>G | GRCh38 |
| NC_000005.9:g.70931053A>G , CM000667.1:g.70931053A>G | GRCh37 |
| NC_000005.8:g.70966809A>G | NCBI36 |
| NG_008882.1:g.52939A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.935A>G | ||
| ENST00000505787.8:n.2819A>G | ||
| ENST00000509358.7:c.979A>G | ENSP00000420994.3:p.Arg327Gly | |
| ENST00000509539.3:c.241A>G | ENSP00000425474.3:p.Arg81Gly | |
| ENST00000510895.7:n.1102A>G | ||
| ENST00000629193.3:c.865A>G | ENSP00000486535.2:p.Arg289Gly | |
| ENST00000681968.1:c.472A>G | ENSP00000508143.1:p.Arg158Gly | |
| ENST00000682045.1:c.835A>G | ENSP00000507329.1:p.Arg279Gly | |
| ENST00000682214.1:c.586A>G | ENSP00000507336.1:p.Arg196Gly | |
| ENST00000682499.1:n.1800A>G | ||
| ENST00000682541.1:c.979A>G | ENSP00000507673.1:p.Arg327Gly | |
| ENST00000682687.1:c.979A>G | ENSP00000507945.1:p.Arg327Gly | |
| ENST00000682727.1:c.979A>G | ENSP00000507393.1:p.Arg327Gly | |
| ENST00000682876.1:c.1108A>G | ENSP00000508389.1:p.Arg370Gly | |
| ENST00000683098.1:c.803+3041A>G | ENSP00000507670.1:n.803+3041A>G | |
| ENST00000683258.1:c.*700A>G | ENSP00000507448.1:n.*700A>G | |
| ENST00000683339.1:c.763A>G | ENSP00000507758.1:p.Arg255Gly | |
| ENST00000683403.1:c.889A>G | ENSP00000507896.1:p.Arg297Gly | |
| ENST00000683429.1:c.586A>G | ENSP00000507697.1:p.Arg196Gly | |
| ENST00000683665.1:c.979A>G | ENSP00000507068.1:p.Arg327Gly | |
| ENST00000683789.1:c.865A>G | ENSP00000507012.1:p.Arg289Gly | |
| ENST00000683847.1:n.823A>G | ||
| ENST00000683882.1:c.979A>G | ENSP00000506735.1:p.Arg327Gly | |
| ENST00000684024.1:c.*650A>G | ENSP00000507175.1:n.*650A>G | |
| ENST00000684254.1:c.*705A>G | ENSP00000508001.1:n.*705A>G | |
| ENST00000684310.1:c.165+184A>G | ENSP00000507550.1:n.165+184A>G | |
| ENST00000684530.1:c.241A>G | ENSP00000507439.1:p.Arg81Gly | |
| ENST00000684652.1:n.1981A>G | ||
| ENST00000340941.11:c.979A>G MANE Select | ENSP00000343657.6:p.Arg327Gly | |
| ENST00000340941.10:c.979A>G | ENSP00000343657.6:p.Arg327Gly | |
| ENST00000505435.3:n.330A>G | ||
| ENST00000509358.6:c.979A>G | ENSP00000420994.2:p.Arg327Gly | |
| ENST00000509539.2:c.304A>G | ENSP00000425474.2:p.Arg102Gly | |
| ENST00000510895.6:n.593A>G | ||
| ENST00000512218.6:c.865A>G | ENSP00000423202.2:p.Arg289Gly | |
| ENST00000629193.2:c.865A>G | ENSP00000486535.1:p.Arg289Gly | |
| NM_022132.4:c.979A>G | NP_071415.1:p.Arg327Gly | |
| XM_005248567.1:c.865A>G | XP_005248624.1:p.Arg289Gly | |
| XM_011543528.1:c.979A>G | XP_011541830.1:p.Arg327Gly | |
| XM_011543529.1:c.979A>G | XP_011541831.1:p.Arg327Gly | |
| NM_001363147.1:c.865A>G | NP_001350076.1:p.Arg289Gly | |
| XM_011543529.2:c.979A>G | XP_011541831.1:p.Arg327Gly | |
| XM_017009688.1:c.979A>G | XP_016865177.1:p.Arg327Gly | |
| XR_001742172.1:n.1019A>G | ||
| NM_022132.5:c.979A>G MANE Select | NP_071415.1:p.Arg327Gly |