Linked Data
dbSNP Id:
rs769446870
ExAC:
12:53823639 C / T
gnomAD v2:
12-53823639-C-T
gnomAD v4:
12-53429855-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53429855C>T , CM000674.2:g.53429855C>T | GRCh38 |
| NC_000012.11:g.53823639C>T , CM000674.1:g.53823639C>T | GRCh37 |
| NC_000012.10:g.52109906C>T | NCBI36 |
| NG_015981.1:g.11001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1165C>T MANE Select | ENSP00000257863.3:p.Pro389Ser | |
| ENST00000257863.8:c.1165C>T | ENSP00000257863.3:p.Pro389Ser | |
| ENST00000379791.7:c.1140+230C>T | ENSP00000369117.3:n.1140+230C>T | |
| ENST00000550311.5:c.1165C>T | ENSP00000446661.1:p.Pro389Ser | |
| ENST00000550839.1:c.256C>T | ENSP00000455338.1:p.Pro86Ser | |
| ENST00000552233.5:n.753C>T | ||
| NM_001164690.1:c.1165C>T | NP_001158162.1:p.Pro389Ser | |
| NM_001164691.1:c.1140+230C>T | NP_001158163.1:n.1140+230C>T | |
| NM_020547.2:c.1165C>T | NP_065434.1:p.Pro389Ser | |
| XM_011538173.1:c.1225C>T | XP_011536475.1:p.Pro409Ser | |
| XM_011538174.1:c.1222C>T | XP_011536476.1:p.Pro408Ser | |
| XM_011538175.1:c.1207C>T | XP_011536477.1:p.Pro403Ser | |
| XM_011538176.1:c.1168C>T | XP_011536478.1:p.Pro390Ser | |
| XM_011538177.1:c.1147C>T | XP_011536479.1:p.Pro383Ser | |
| XM_011538178.1:c.1006C>T | XP_011536480.1:p.Pro336Ser | |
| XM_011538179.1:c.1200+230C>T | XP_011536481.1:n.1200+230C>T | |
| XM_011538180.1:c.892C>T | XP_011536482.1:p.Pro298Ser | |
| XM_011538181.1:c.889C>T | XP_011536483.1:p.Pro297Ser | |
| XM_011538182.1:c.814C>T | XP_011536484.1:p.Pro272Ser | |
| XM_011538183.1:c.1200+230C>T | XP_011536485.1:n.1200+230C>T | |
| XM_011538184.1:c.1220+210C>T | XP_011536486.1:n.1220+210C>T | |
| XM_011538185.1:c.856-1322C>T | XP_011536487.1:n.856-1322C>T | |
| XM_011538186.1:c.340C>T | XP_011536488.1:p.Pro114Ser | |
| NM_001164690.2:c.1165C>T | NP_001158162.1:p.Pro389Ser | |
| NM_001164691.2:c.1140+230C>T | NP_001158163.1:n.1140+230C>T | |
| NM_020547.3:c.1165C>T MANE Select | NP_065434.1:p.Pro389Ser | |
| XM_011538183.2:c.1200+230C>T | XP_011536485.1:n.1200+230C>T | |
| XM_011538184.2:c.1220+210C>T | XP_011536486.1:n.1220+210C>T | |
| XM_011538186.3:c.340C>T | XP_011536488.1:p.Pro114Ser | |
| XM_017019179.2:c.1225C>T | XP_016874668.1:p.Pro409Ser | |
| XM_024448938.1:c.1143+230C>T | XP_024304706.1:n.1143+230C>T | |
| XR_002957309.1:n.1133C>T | ||
| XR_002957310.1:n.1108+230C>T | ||
| XR_002957311.1:n.1133C>T | ||
| XR_002957312.1:n.1108+230C>T |