Linked Data
dbSNP Id:
rs762523718
ExAC:
12:53823660 C / T
gnomAD v2:
12-53823660-C-T
gnomAD v3:
12-53429876-C-T
gnomAD v4:
12-53429876-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53429876C>T , CM000674.2:g.53429876C>T | GRCh38 |
| NC_000012.11:g.53823660C>T , CM000674.1:g.53823660C>T | GRCh37 |
| NC_000012.10:g.52109927C>T | NCBI36 |
| NG_015981.1:g.11022C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1186C>T MANE Select | ENSP00000257863.3:p.Leu396= | |
| ENST00000257863.8:c.1186C>T | ENSP00000257863.3:p.Leu396= | |
| ENST00000379791.7:c.1140+251C>T | ENSP00000369117.3:n.1140+251C>T | |
| ENST00000550311.5:c.1186C>T | ENSP00000446661.1:p.Leu396= | |
| ENST00000550839.1:c.277C>T | ENSP00000455338.1:p.Leu93= | |
| ENST00000552233.5:n.774C>T | ||
| NM_001164690.1:c.1186C>T | NP_001158162.1:p.Leu396= | |
| NM_001164691.1:c.1140+251C>T | NP_001158163.1:n.1140+251C>T | |
| NM_020547.2:c.1186C>T | NP_065434.1:p.Leu396= | |
| XM_011538173.1:c.1246C>T | XP_011536475.1:p.Leu416= | |
| XM_011538174.1:c.1243C>T | XP_011536476.1:p.Leu415= | |
| XM_011538175.1:c.1228C>T | XP_011536477.1:p.Leu410= | |
| XM_011538176.1:c.1189C>T | XP_011536478.1:p.Leu397= | |
| XM_011538177.1:c.1168C>T | XP_011536479.1:p.Leu390= | |
| XM_011538178.1:c.1027C>T | XP_011536480.1:p.Leu343= | |
| XM_011538179.1:c.1200+251C>T | XP_011536481.1:n.1200+251C>T | |
| XM_011538180.1:c.913C>T | XP_011536482.1:p.Leu305= | |
| XM_011538181.1:c.910C>T | XP_011536483.1:p.Leu304= | |
| XM_011538182.1:c.835C>T | XP_011536484.1:p.Leu279= | |
| XM_011538183.1:c.1200+251C>T | XP_011536485.1:n.1200+251C>T | |
| XM_011538184.1:c.1220+231C>T | XP_011536486.1:n.1220+231C>T | |
| XM_011538185.1:c.856-1301C>T | XP_011536487.1:n.856-1301C>T | |
| XM_011538186.1:c.361C>T | XP_011536488.1:p.Leu121= | |
| NM_001164690.2:c.1186C>T | NP_001158162.1:p.Leu396= | |
| NM_001164691.2:c.1140+251C>T | NP_001158163.1:n.1140+251C>T | |
| NM_020547.3:c.1186C>T MANE Select | NP_065434.1:p.Leu396= | |
| XM_011538183.2:c.1200+251C>T | XP_011536485.1:n.1200+251C>T | |
| XM_011538184.2:c.1220+231C>T | XP_011536486.1:n.1220+231C>T | |
| XM_011538186.3:c.361C>T | XP_011536488.1:p.Leu121= | |
| XM_017019179.2:c.1246C>T | XP_016874668.1:p.Leu416= | |
| XM_024448938.1:c.1143+251C>T | XP_024304706.1:n.1143+251C>T | |
| XR_002957309.1:n.1154C>T | ||
| XR_002957310.1:n.1108+251C>T | ||
| XR_002957311.1:n.1154C>T | ||
| XR_002957312.1:n.1108+251C>T |