Linked Data
dbSNP Id:
rs527341740
gnomAD v2:
12-53823548-A-T
gnomAD v3:
12-53429764-A-T
gnomAD v4:
12-53429764-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53429764A>T , CM000674.2:g.53429764A>T | GRCh38 |
| NC_000012.11:g.53823548A>T , CM000674.1:g.53823548A>T | GRCh37 |
| NC_000012.10:g.52109815A>T | NCBI36 |
| NG_015981.1:g.10910A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1141-67A>T MANE Select | ENSP00000257863.3:n.1141-67A>T | |
| ENST00000257863.8:c.1141-67A>T | ENSP00000257863.3:n.1141-67A>T | |
| ENST00000379791.7:c.1140+139A>T | ENSP00000369117.3:n.1140+139A>T | |
| ENST00000550311.5:c.1141-67A>T | ENSP00000446661.1:n.1141-67A>T | |
| ENST00000550839.1:c.232-67A>T | ENSP00000455338.1:n.232-67A>T | |
| ENST00000552233.5:n.662A>T | ||
| NM_001164690.1:c.1141-67A>T | NP_001158162.1:n.1141-67A>T | |
| NM_001164691.1:c.1140+139A>T | NP_001158163.1:n.1140+139A>T | |
| NM_020547.2:c.1141-67A>T | NP_065434.1:n.1141-67A>T | |
| XM_011538173.1:c.1201-67A>T | XP_011536475.1:n.1201-67A>T | |
| XM_011538174.1:c.1198-67A>T | XP_011536476.1:n.1198-67A>T | |
| XM_011538175.1:c.1183-67A>T | XP_011536477.1:n.1183-67A>T | |
| XM_011538176.1:c.1144-67A>T | XP_011536478.1:n.1144-67A>T | |
| XM_011538177.1:c.1123-67A>T | XP_011536479.1:n.1123-67A>T | |
| XM_011538178.1:c.982-67A>T | XP_011536480.1:n.982-67A>T | |
| XM_011538179.1:c.1200+139A>T | XP_011536481.1:n.1200+139A>T | |
| XM_011538180.1:c.868-67A>T | XP_011536482.1:n.868-67A>T | |
| XM_011538181.1:c.865-67A>T | XP_011536483.1:n.865-67A>T | |
| XM_011538182.1:c.790-67A>T | XP_011536484.1:n.790-67A>T | |
| XM_011538183.1:c.1200+139A>T | XP_011536485.1:n.1200+139A>T | |
| XM_011538184.1:c.1220+119A>T | XP_011536486.1:n.1220+119A>T | |
| XM_011538185.1:c.856-1413A>T | XP_011536487.1:n.856-1413A>T | |
| XM_011538186.1:c.316-67A>T | XP_011536488.1:n.316-67A>T | |
| NM_001164690.2:c.1141-67A>T | NP_001158162.1:n.1141-67A>T | |
| NM_001164691.2:c.1140+139A>T | NP_001158163.1:n.1140+139A>T | |
| NM_020547.3:c.1141-67A>T MANE Select | NP_065434.1:n.1141-67A>T | |
| XM_011538183.2:c.1200+139A>T | XP_011536485.1:n.1200+139A>T | |
| XM_011538184.2:c.1220+119A>T | XP_011536486.1:n.1220+119A>T | |
| XM_011538186.3:c.316-67A>T | XP_011536488.1:n.316-67A>T | |
| XM_017019179.2:c.1201-67A>T | XP_016874668.1:n.1201-67A>T | |
| XM_024448938.1:c.1143+139A>T | XP_024304706.1:n.1143+139A>T | |
| XR_002957309.1:n.1109-67A>T | ||
| XR_002957310.1:n.1108+139A>T | ||
| XR_002957311.1:n.1109-67A>T | ||
| XR_002957312.1:n.1108+139A>T |