Linked Data
dbSNP Id:
rs1401196084
gnomAD v2:
12-53823726-T-C
gnomAD v3:
12-53429942-T-C
gnomAD v4:
12-53429942-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53429942T>C , CM000674.2:g.53429942T>C | GRCh38 |
| NC_000012.11:g.53823726T>C , CM000674.1:g.53823726T>C | GRCh37 |
| NC_000012.10:g.52109993T>C | NCBI36 |
| NG_015981.1:g.11088T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1252T>C MANE Select | ENSP00000257863.3:p.Trp418Arg | |
| ENST00000257863.8:c.1252T>C | ENSP00000257863.3:p.Trp418Arg | |
| ENST00000379791.7:c.1140+317T>C | ENSP00000369117.3:n.1140+317T>C | |
| ENST00000550311.5:c.1252T>C | ENSP00000446661.1:p.Trp418Arg | |
| ENST00000550839.1:c.343T>C | ENSP00000455338.1:p.Trp115Arg | |
| ENST00000552233.5:n.840T>C | ||
| NM_001164690.1:c.1252T>C | NP_001158162.1:p.Trp418Arg | |
| NM_001164691.1:c.1140+317T>C | NP_001158163.1:n.1140+317T>C | |
| NM_020547.2:c.1252T>C | NP_065434.1:p.Trp418Arg | |
| XM_011538173.1:c.1312T>C | XP_011536475.1:p.Trp438Arg | |
| XM_011538174.1:c.1309T>C | XP_011536476.1:p.Trp437Arg | |
| XM_011538175.1:c.1294T>C | XP_011536477.1:p.Trp432Arg | |
| XM_011538176.1:c.1255T>C | XP_011536478.1:p.Trp419Arg | |
| XM_011538177.1:c.1234T>C | XP_011536479.1:p.Trp412Arg | |
| XM_011538178.1:c.1093T>C | XP_011536480.1:p.Trp365Arg | |
| XM_011538179.1:c.1200+317T>C | XP_011536481.1:n.1200+317T>C | |
| XM_011538180.1:c.979T>C | XP_011536482.1:p.Trp327Arg | |
| XM_011538181.1:c.976T>C | XP_011536483.1:p.Trp326Arg | |
| XM_011538182.1:c.901T>C | XP_011536484.1:p.Trp301Arg | |
| XM_011538183.1:c.1201-204T>C | XP_011536485.1:n.1201-204T>C | |
| XM_011538184.1:c.1220+297T>C | XP_011536486.1:n.1220+297T>C | |
| XM_011538185.1:c.856-1235T>C | XP_011536487.1:n.856-1235T>C | |
| XM_011538186.1:c.427T>C | XP_011536488.1:p.Trp143Arg | |
| NM_001164690.2:c.1252T>C | NP_001158162.1:p.Trp418Arg | |
| NM_001164691.2:c.1140+317T>C | NP_001158163.1:n.1140+317T>C | |
| NM_020547.3:c.1252T>C MANE Select | NP_065434.1:p.Trp418Arg | |
| XM_011538183.2:c.1201-204T>C | XP_011536485.1:n.1201-204T>C | |
| XM_011538184.2:c.1220+297T>C | XP_011536486.1:n.1220+297T>C | |
| XM_011538186.3:c.427T>C | XP_011536488.1:p.Trp143Arg | |
| XM_017019179.2:c.1312T>C | XP_016874668.1:p.Trp438Arg | |
| XM_024448938.1:c.1143+317T>C | XP_024304706.1:n.1143+317T>C | |
| XR_002957309.1:n.1220T>C | ||
| XR_002957310.1:n.1109-204T>C | ||
| XR_002957311.1:n.1220T>C | ||
| XR_002957312.1:n.1108+317T>C |