Linked Data
ClinVar Variation Id:
306751
dbSNP Id:
rs73390504
ExAC:
12:102079385 C / T
gnomAD v2:
12-102079385-C-T
gnomAD v3:
12-101685607-C-T
gnomAD v4:
12-101685607-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101685607C>T , CM000674.2:g.101685607C>T | GRCh38 |
| NC_000012.11:g.102079385C>T , CM000674.1:g.102079385C>T | GRCh37 |
| NC_000012.10:g.100603516C>T | NCBI36 |
| NG_031912.1:g.95677C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361466.7:c.*45C>T MANE Select | ENSP00000354849.2:n.*45C>T | |
| ENST00000361466.6:c.*45C>T | ENSP00000354849.2:n.*45C>T | |
| ENST00000361685.6:c.*55C>T | ENSP00000354845.2:n.*55C>T | |
| ENST00000392934.7:c.3345C>T | ENSP00000376665.3:p.Leu1115= | |
| ENST00000441232.5:c.*1151C>T | ENSP00000388989.3:n.*1151C>T | |
| ENST00000452455.6:c.3497C>T | ENSP00000400908.2:p.Ser1166Phe | |
| ENST00000536007.5:c.*45C>T | ENSP00000446128.1:n.*45C>T | |
| ENST00000541119.5:c.*45C>T | ENSP00000442847.1:n.*45C>T | |
| ENST00000545503.6:c.*45C>T | ENSP00000440034.2:n.*45C>T | |
| ENST00000547405.5:c.*45C>T | ENSP00000448175.1:n.*45C>T | |
| ENST00000547509.5:c.*45C>T | ENSP00000447362.1:n.*45C>T | |
| ENST00000549145.5:c.*55C>T | ENSP00000447660.1:n.*55C>T | |
| ENST00000549608.1:n.1698C>T | ||
| ENST00000550501.3:n.702C>T | ||
| ENST00000551300.5:c.*55C>T | ENSP00000447116.1:n.*55C>T | |
| ENST00000553190.5:c.*55C>T | ENSP00000447900.1:n.*55C>T | |
| NM_001254718.1:c.3497C>T | NP_001241647.1:p.Ser1166Phe | |
| NM_001254719.1:c.*45C>T | NP_001241648.1:n.*45C>T | |
| NM_001254720.1:c.*45C>T | NP_001241649.1:n.*45C>T | |
| NM_001254721.1:c.*45C>T | NP_001241650.1:n.*45C>T | |
| NM_001254722.1:c.*45C>T | NP_001241651.1:n.*45C>T | |
| NM_001254723.1:c.3345C>T | NP_001241652.1:p.Leu1115= | |
| NM_002465.3:c.*45C>T | NP_002456.2:n.*45C>T | |
| NM_206819.2:c.*55C>T | NP_996555.1:n.*55C>T | |
| NM_206820.2:c.*55C>T | NP_996556.1:n.*55C>T | |
| NM_206821.2:c.*55C>T | NP_996557.1:n.*55C>T | |
| XM_005268876.3:c.3423C>T | XP_005268933.1:p.Leu1141= | |
| XM_006719405.2:c.3513C>T | XP_006719468.1:p.Leu1171= | |
| XM_006719406.2:c.*45C>T | XP_006719469.1:n.*45C>T | |
| XM_006719407.2:c.3477C>T | XP_006719470.1:p.Leu1159= | |
| XM_006719408.2:c.3459C>T | XP_006719471.1:p.Leu1153= | |
| XM_006719409.2:c.3438C>T | XP_006719472.1:p.Leu1146= | |
| XM_006719410.2:c.*55C>T | XP_006719473.1:n.*55C>T | |
| XM_006719411.2:c.*45C>T | XP_006719474.1:n.*45C>T | |
| XM_005268876.4:c.3423C>T | XP_005268933.1:p.Leu1141= | |
| XM_006719405.4:c.3513C>T | XP_006719468.1:p.Leu1171= | |
| XM_006719406.4:c.*45C>T | XP_006719469.1:n.*45C>T | |
| XM_006719407.3:c.3477C>T | XP_006719470.1:p.Leu1159= | |
| XM_006719408.4:c.3459C>T | XP_006719471.1:p.Leu1153= | |
| XM_006719409.3:c.3438C>T | XP_006719472.1:p.Leu1146= | |
| XM_006719410.4:c.*55C>T | XP_006719473.1:n.*55C>T | |
| XM_006719411.3:c.*45C>T | XP_006719474.1:n.*45C>T | |
| XM_017019315.2:c.3456C>T | XP_016874804.1:p.Leu1152= | |
| XM_017019316.2:c.3487+5078C>T | XP_016874805.1:n.3487+5078C>T | |
| XM_017019317.1:c.3384C>T | XP_016874806.1:p.Leu1128= | |
| XM_017019318.2:c.*45C>T | XP_016874807.1:n.*45C>T | |
| XM_017019319.2:c.3381C>T | XP_016874808.1:p.Leu1127= | |
| XM_017019320.1:c.3360C>T | XP_016874809.1:p.Leu1120= | |
| XM_017019321.2:c.3327C>T | XP_016874810.1:p.Leu1109= | |
| XM_017019322.1:c.3249C>T | XP_016874811.1:p.Leu1083= | |
| NM_002465.4:c.*45C>T MANE Select | NP_002456.2:n.*45C>T | |
| NM_001254718.2:c.3497C>T | NP_001241647.1:p.Ser1166Phe | |
| NM_001254719.2:c.*45C>T | NP_001241648.1:n.*45C>T | |
| NM_001254720.2:c.*45C>T | NP_001241649.1:n.*45C>T | |
| NM_001254721.2:c.*45C>T | NP_001241650.1:n.*45C>T | |
| NM_001254722.2:c.*45C>T | NP_001241651.1:n.*45C>T | |
| NM_001254723.2:c.3345C>T | NP_001241652.1:p.Leu1115= | |
| NM_206819.3:c.*55C>T | NP_996555.1:n.*55C>T | |
| NM_206820.3:c.*55C>T | NP_996556.1:n.*55C>T | |
| NM_206821.3:c.*55C>T | NP_996557.1:n.*55C>T |