Linked Data
ClinVar Variation Id:
464249
dbSNP Id:
rs375309925
ExAC:
2:241662920 G / A
gnomAD v2:
2-241662920-G-A
gnomAD v3:
2-240723503-G-A
gnomAD v4:
2-240723503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240723503G>A , CM000664.2:g.240723503G>A | GRCh38 |
| NC_000002.11:g.241662920G>A , CM000664.1:g.241662920G>A | GRCh37 |
| NC_000002.10:g.241311593G>A | NCBI36 |
| NG_029724.1:g.101705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320389.12:c.4095C>T | ENSP00000322791.8:p.Gly1365= | |
| ENST00000404283.9:c.4398C>T | ENSP00000384231.5:p.Gly1466= | |
| ENST00000431776.6:c.1194C>T | ENSP00000414613.2:p.Gly398= | |
| ENST00000492812.6:n.2957C>T | ||
| ENST00000498729.9:c.4374C>T MANE Select | ENSP00000438388.1:p.Gly1458= | |
| ENST00000647731.1:c.4098C>T | ENSP00000498099.1:p.Gly1366= | |
| ENST00000647885.1:c.4185C>T | ENSP00000497739.1:p.Gly1395= | |
| ENST00000648047.1:c.3333C>T | ENSP00000497935.1:p.Gly1111= | |
| ENST00000648129.1:c.4347C>T | ENSP00000497293.1:p.Gly1449= | |
| ENST00000648364.1:c.4098C>T | ENSP00000498196.1:p.Gly1366= | |
| ENST00000648680.1:c.4125C>T | ENSP00000497586.1:p.Gly1375= | |
| ENST00000649096.1:c.4071C>T | ENSP00000497030.1:p.Gly1357= | |
| ENST00000649190.1:n.3368C>T | ||
| ENST00000649306.1:c.4173C>T | ENSP00000497678.1:p.Gly1391= | |
| ENST00000650053.1:c.4071C>T | ENSP00000497824.1:p.Gly1357= | |
| ENST00000650130.1:c.4347C>T | ENSP00000498082.1:p.Gly1449= | |
| ENST00000650430.1:n.3446C>T | ||
| ENST00000676368.1:n.146C>T | ||
| ENST00000320389.11:c.4071C>T | ENSP00000322791.7:p.Gly1357= | |
| ENST00000404283.7:c.4398C>T | ENSP00000384231.3:p.Gly1466= | |
| ENST00000431776.5:c.869C>T | ||
| ENST00000460788.5:n.931C>T | ||
| ENST00000492812.5:n.846C>T | ||
| ENST00000498729.6:c.4374C>T | ENSP00000438388.1:p.Gly1458= | |
| NM_001244008.1:c.4374C>T | NP_001230937.1:p.Gly1458= | |
| NM_004321.6:c.4071C>T | NP_004312.2:p.Gly1357= | |
| XM_005247022.1:c.4401C>T | XP_005247079.1:p.Gly1467= | |
| XM_005247023.1:c.4398C>T | XP_005247080.1:p.Gly1466= | |
| XM_005247024.1:c.4374C>T | XP_005247081.1:p.Gly1458= | |
| XM_005247026.1:c.4098C>T | XP_005247083.1:p.Gly1366= | |
| XM_005247027.1:c.4095C>T | XP_005247084.1:p.Gly1365= | |
| XM_005247028.1:c.4071C>T | XP_005247085.1:p.Gly1357= | |
| XM_006712605.1:c.4347C>T | XP_006712668.1:p.Gly1449= | |
| XM_011511364.1:c.4401C>T | XP_011509666.1:p.Gly1467= | |
| XM_011511365.1:c.4125C>T | XP_011509667.1:p.Gly1375= | |
| XM_011511366.1:c.3396C>T | XP_011509668.1:p.Gly1132= | |
| XM_011511367.1:c.3396C>T | XP_011509669.1:p.Gly1132= | |
| NM_001320705.1:c.4098C>T | NP_001307634.1:p.Gly1366= | |
| NM_001330289.1:c.4125C>T | NP_001317218.1:p.Gly1375= | |
| NM_001330290.1:c.4173C>T | NP_001317219.1:p.Gly1391= | |
| NM_004321.7:c.4071C>T | NP_004312.2:p.Gly1357= | |
| NM_001320705.2:c.4098C>T | NP_001307634.1:p.Gly1366= | |
| NM_001330289.2:c.4125C>T | NP_001317218.1:p.Gly1375= | |
| NM_001330290.2:c.4173C>T | NP_001317219.1:p.Gly1391= | |
| NM_001244008.2:c.4374C>T MANE Select | NP_001230937.1:p.Gly1458= | |
| NM_001379631.1:c.4449C>T | NP_001366560.1:p.Gly1483= | |
| NM_001379632.1:c.4350C>T | NP_001366561.1:p.Gly1450= | |
| NM_001379633.1:c.4347C>T | NP_001366562.1:p.Gly1449= | |
| NM_001379634.1:c.4200C>T | NP_001366563.1:p.Gly1400= | |
| NM_001379635.1:c.4197C>T | NP_001366564.1:p.Gly1399= | |
| NM_001379636.1:c.4185C>T | NP_001366565.1:p.Gly1395= | |
| NM_001379637.1:c.4146C>T | NP_001366566.1:p.Gly1382= | |
| NM_001379638.1:c.4122C>T | NP_001366567.1:p.Gly1374= | |
| NM_001379639.1:c.4095C>T | NP_001366568.1:p.Gly1365= | |
| NM_001379640.1:c.4068C>T | NP_001366569.1:p.Gly1356= | |
| NM_001379641.1:c.4071C>T | NP_001366570.1:p.Gly1357= | |
| NM_001379642.1:c.4374C>T | NP_001366571.1:p.Gly1458= | |
| NM_001379645.1:c.4347C>T | NP_001366574.1:p.Gly1449= | |
| NM_001379646.1:c.4197C>T | NP_001366575.1:p.Gly1399= | |
| NM_001379648.1:c.4173C>T | NP_001366577.1:p.Gly1391= | |
| NM_001379649.1:c.4098C>T | NP_001366578.1:p.Gly1366= | |
| NM_001379650.1:c.4071C>T | NP_001366579.1:p.Gly1357= | |
| NM_001379651.1:c.4071C>T | NP_001366580.1:p.Gly1357= | |
| NM_001379653.1:c.4071C>T | NP_001366582.1:p.Gly1357= | |
| NM_004321.8:c.4071C>T | NP_004312.2:p.Gly1357= |