Linked Data
dbSNP Id:
rs1452594237
gnomAD v2:
12-53823636-G-A
gnomAD v3:
12-53429852-G-A
gnomAD v4:
12-53429852-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53429852G>A , CM000674.2:g.53429852G>A | GRCh38 |
| NC_000012.11:g.53823636G>A , CM000674.1:g.53823636G>A | GRCh37 |
| NC_000012.10:g.52109903G>A | NCBI36 |
| NG_015981.1:g.10998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1162G>A MANE Select | ENSP00000257863.3:p.Ala388Thr | |
| ENST00000257863.8:c.1162G>A | ENSP00000257863.3:p.Ala388Thr | |
| ENST00000379791.7:c.1140+227G>A | ENSP00000369117.3:n.1140+227G>A | |
| ENST00000550311.5:c.1162G>A | ENSP00000446661.1:p.Ala388Thr | |
| ENST00000550839.1:c.253G>A | ENSP00000455338.1:p.Ala85Thr | |
| ENST00000552233.5:n.750G>A | ||
| NM_001164690.1:c.1162G>A | NP_001158162.1:p.Ala388Thr | |
| NM_001164691.1:c.1140+227G>A | NP_001158163.1:n.1140+227G>A | |
| NM_020547.2:c.1162G>A | NP_065434.1:p.Ala388Thr | |
| XM_011538173.1:c.1222G>A | XP_011536475.1:p.Ala408Thr | |
| XM_011538174.1:c.1219G>A | XP_011536476.1:p.Ala407Thr | |
| XM_011538175.1:c.1204G>A | XP_011536477.1:p.Ala402Thr | |
| XM_011538176.1:c.1165G>A | XP_011536478.1:p.Ala389Thr | |
| XM_011538177.1:c.1144G>A | XP_011536479.1:p.Ala382Thr | |
| XM_011538178.1:c.1003G>A | XP_011536480.1:p.Ala335Thr | |
| XM_011538179.1:c.1200+227G>A | XP_011536481.1:n.1200+227G>A | |
| XM_011538180.1:c.889G>A | XP_011536482.1:p.Ala297Thr | |
| XM_011538181.1:c.886G>A | XP_011536483.1:p.Ala296Thr | |
| XM_011538182.1:c.811G>A | XP_011536484.1:p.Ala271Thr | |
| XM_011538183.1:c.1200+227G>A | XP_011536485.1:n.1200+227G>A | |
| XM_011538184.1:c.1220+207G>A | XP_011536486.1:n.1220+207G>A | |
| XM_011538185.1:c.856-1325G>A | XP_011536487.1:n.856-1325G>A | |
| XM_011538186.1:c.337G>A | XP_011536488.1:p.Ala113Thr | |
| NM_001164690.2:c.1162G>A | NP_001158162.1:p.Ala388Thr | |
| NM_001164691.2:c.1140+227G>A | NP_001158163.1:n.1140+227G>A | |
| NM_020547.3:c.1162G>A MANE Select | NP_065434.1:p.Ala388Thr | |
| XM_011538183.2:c.1200+227G>A | XP_011536485.1:n.1200+227G>A | |
| XM_011538184.2:c.1220+207G>A | XP_011536486.1:n.1220+207G>A | |
| XM_011538186.3:c.337G>A | XP_011536488.1:p.Ala113Thr | |
| XM_017019179.2:c.1222G>A | XP_016874668.1:p.Ala408Thr | |
| XM_024448938.1:c.1143+227G>A | XP_024304706.1:n.1143+227G>A | |
| XR_002957309.1:n.1130G>A | ||
| XR_002957310.1:n.1108+227G>A | ||
| XR_002957311.1:n.1130G>A | ||
| XR_002957312.1:n.1108+227G>A |