Linked Data
dbSNP Id:
rs960492727
gnomAD v2:
19-41198227-C-T
gnomAD v3:
19-40692322-C-T
gnomAD v4:
19-40692322-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40692322C>T , CM000681.2:g.40692322C>T | GRCh38 |
| NC_000019.9:g.41198227C>T , CM000681.1:g.41198227C>T | GRCh37 |
| NC_000019.8:g.45890067C>T | NCBI36 |
| NG_027800.1:g.29564G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.1348G>A MANE Select | ENSP00000315118.3:p.Ala450Thr | |
| ENST00000593724.2:n.3171G>A | ||
| ENST00000594490.6:c.1270G>A | ENSP00000471310.2:p.Ala424Thr | |
| ENST00000594720.6:c.1348G>A | ENSP00000470876.2:p.Ala450Thr | |
| ENST00000596455.6:n.1640G>A | ||
| ENST00000601967.6:c.1348G>A | ENSP00000470916.2:p.Ala450Thr | |
| ENST00000676555.1:c.*773G>A | ENSP00000503387.1:n.*773G>A | |
| ENST00000676578.1:c.*1090G>A | ENSP00000504076.1:n.*1090G>A | |
| ENST00000676960.1:n.1473G>A | ||
| ENST00000676962.1:n.1627G>A | ||
| ENST00000677018.1:c.1348G>A | ENSP00000503480.1:p.Ala450Thr | |
| ENST00000677039.1:n.3551G>A | ||
| ENST00000677399.1:n.1790G>A | ||
| ENST00000677496.1:c.1021G>A | ENSP00000504773.1:p.Ala341Thr | |
| ENST00000677517.1:c.1021G>A | ENSP00000503519.1:p.Ala341Thr | |
| ENST00000677633.1:c.*771G>A | ENSP00000503645.1:n.*771G>A | |
| ENST00000677800.1:c.*4452G>A | ENSP00000503794.1:n.*4452G>A | |
| ENST00000678057.1:c.*912G>A | ENSP00000503762.1:n.*912G>A | |
| ENST00000678119.1:n.1542G>A | ||
| ENST00000678166.1:n.1491G>A | ||
| ENST00000678312.1:n.1685G>A | ||
| ENST00000678316.1:c.*771G>A | ENSP00000504112.1:n.*771G>A | |
| ENST00000678371.1:n.1798G>A | ||
| ENST00000678404.1:c.1348G>A | ENSP00000503944.1:p.Ala450Thr | |
| ENST00000678419.1:c.1348G>A | ENSP00000504085.1:p.Ala450Thr | |
| ENST00000678433.1:n.1704G>A | ||
| ENST00000678467.1:c.1348G>A | ENSP00000504072.1:p.Ala450Thr | |
| ENST00000678569.1:c.*333G>A | ENSP00000504261.1:n.*333G>A | |
| ENST00000678961.1:n.1703G>A | ||
| ENST00000679002.1:n.1527G>A | ||
| ENST00000679012.1:c.904G>A | ENSP00000504446.1:p.Ala302Thr | |
| ENST00000679070.1:c.*767G>A | ENSP00000503759.1:n.*767G>A | |
| ENST00000679130.1:c.1348G>A | ENSP00000504845.1:p.Ala450Thr | |
| ENST00000679315.1:c.*1178G>A | ENSP00000503065.1:n.*1178G>A | |
| ENST00000243583.10:c.1225G>A | ENSP00000243583.5:p.Ala409Thr | |
| ENST00000324464.7:c.1348G>A | ENSP00000315118.3:p.Ala450Thr | |
| ENST00000593724.1:n.1463G>A | ||
| NM_001142555.2:c.1225G>A | NP_001136027.1:p.Ala409Thr | |
| NM_024876.3:c.1348G>A | NP_079152.3:p.Ala450Thr | |
| XM_005259270.3:c.1510G>A | XP_005259327.2:p.Ala504Thr | |
| XM_005259271.3:c.1348G>A | XP_005259328.1:p.Ala450Thr | |
| XM_005259272.3:c.1348G>A | XP_005259329.1:p.Ala450Thr | |
| XM_005259273.3:c.1348G>A | XP_005259330.1:p.Ala450Thr | |
| XM_006723392.2:c.1348G>A | XP_006723455.1:p.Ala450Thr | |
| XM_006723393.2:c.1348G>A | XP_006723456.1:p.Ala450Thr | |
| XM_011527334.1:c.1348G>A | XP_011525636.1:p.Ala450Thr | |
| XM_011527335.1:c.1207G>A | XP_011525637.1:p.Ala403Thr | |
| XM_011527336.1:c.1378G>A | XP_011525638.1:p.Ala460Thr | |
| XM_011527337.1:c.1348G>A | XP_011525639.1:p.Ala450Thr | |
| XM_011527338.1:c.1348G>A | XP_011525640.1:p.Ala450Thr | |
| NM_024876.4:c.1348G>A MANE Select | NP_079152.3:p.Ala450Thr | |
| NM_001142555.3:c.1225G>A | NP_001136027.1:p.Ala409Thr |