Linked Data
ClinVar Variation Id:
226764
dbSNP Id:
rs40305
ExAC:
3:123411589 G / A
gnomAD v2:
3-123411589-G-A
gnomAD v3:
3-123692742-G-A
gnomAD v4:
3-123692742-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123692742G>A , CM000665.2:g.123692742G>A | GRCh38 |
| NC_000003.11:g.123411589G>A , CM000665.1:g.123411589G>A | GRCh37 |
| NC_000003.10:g.124894279G>A | NCBI36 |
| NG_029111.1:g.196561C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346322.10:c.3351C>T | ENSP00000320622.6:p.Thr1117= | |
| ENST00000504946.6:c.1168C>T | ||
| ENST00000684879.1:n.1190C>T | ||
| ENST00000685021.1:c.792C>T | ENSP00000508447.1:p.Thr264= | |
| ENST00000685259.1:c.1096C>T | ||
| ENST00000685907.1:n.1339C>T | ||
| ENST00000686039.1:c.1096C>T | ||
| ENST00000686245.1:c.682+7278C>T | ENSP00000509313.1:n.682+7278C>T | |
| ENST00000686406.1:c.3558C>T | ENSP00000509044.1:p.Thr1186= | |
| ENST00000686761.1:c.3558C>T | ENSP00000508758.1:p.Thr1186= | |
| ENST00000686822.1:n.3452C>T | ||
| ENST00000687709.1:n.823C>T | ||
| ENST00000687848.1:c.3588C>T | ENSP00000508761.1:p.Thr1196= | |
| ENST00000688024.1:c.792C>T | ENSP00000509803.1:p.Thr264= | |
| ENST00000688223.1:c.792C>T | ENSP00000508935.1:p.Thr264= | |
| ENST00000689227.1:c.1231C>T | ||
| ENST00000689868.1:n.1286C>T | ||
| ENST00000690167.1:n.1229C>T | ||
| ENST00000690457.1:c.2796C>T | ENSP00000508777.1:p.Thr932= | |
| ENST00000691933.1:c.1096C>T | ||
| ENST00000692352.1:c.1096C>T | ||
| ENST00000693689.1:c.3351C>T | ENSP00000510503.1:p.Thr1117= | |
| ENST00000360304.8:c.3558C>T MANE Select | ENSP00000353452.3:p.Thr1186= | |
| ENST00000346322.9:c.3351C>T | ENSP00000320622.5:p.Thr1117= | |
| ENST00000354792.9:c.3351C>T | ENSP00000346846.6:p.Thr1117= | |
| ENST00000359169.5:c.3558C>T | ENSP00000352088.1:p.Thr1186= | |
| ENST00000360304.7:c.3558C>T | ENSP00000353452.3:p.Thr1186= | |
| ENST00000360772.7:c.3558C>T | ENSP00000354004.3:p.Thr1186= | |
| ENST00000464489.5:c.*3137C>T | ENSP00000417798.1:n.*3137C>T | |
| ENST00000475616.5:c.3558C>T | ENSP00000418335.1:p.Thr1186= | |
| ENST00000503644.1:n.227C>T | ||
| ENST00000504946.5:n.1116C>T | ||
| ENST00000510775.5:n.276C>T | ||
| NM_053025.3:c.3558C>T | NP_444253.3:p.Thr1186= | |
| NM_053026.3:c.3351C>T | NP_444254.3:p.Thr1117= | |
| NM_053027.3:c.3558C>T | NP_444255.3:p.Thr1186= | |
| NM_053028.3:c.3351C>T | NP_444256.3:p.Thr1117= | |
| XM_011512860.1:c.3558C>T | XP_011511162.1:p.Thr1186= | |
| XM_011512861.1:c.3558C>T | XP_011511163.1:p.Thr1186= | |
| XM_011512862.1:c.3030C>T | XP_011511164.1:p.Thr1010= | |
| NM_001321309.1:c.3030C>T | NP_001308238.1:p.Thr1010= | |
| XM_011512860.3:c.3588C>T | XP_011511162.2:p.Thr1196= | |
| XM_011512861.3:c.3588C>T | XP_011511163.2:p.Thr1196= | |
| XM_017006469.2:c.792C>T | XP_016861958.1:p.Thr264= | |
| XM_024453532.1:c.3588C>T | XP_024309300.1:p.Thr1196= | |
| XM_024453533.1:c.3558C>T | XP_024309301.1:p.Thr1186= | |
| XM_024453534.1:c.3381C>T | XP_024309302.1:p.Thr1127= | |
| XM_024453535.1:c.3351C>T | XP_024309303.1:p.Thr1117= | |
| XM_024453536.1:c.3558C>T | XP_024309304.1:p.Thr1186= | |
| XM_024453537.1:c.3558C>T | XP_024309305.1:p.Thr1186= | |
| NM_001321309.2:c.3030C>T | NP_001308238.1:p.Thr1010= | |
| NM_053025.4:c.3558C>T MANE Select | NP_444253.3:p.Thr1186= | |
| NM_053026.4:c.3351C>T | NP_444254.3:p.Thr1117= | |
| NM_053027.4:c.3558C>T | NP_444255.3:p.Thr1186= | |
| NM_053028.4:c.3351C>T | NP_444256.3:p.Thr1117= |