Linked Data
dbSNP Id:
rs771499688
ExAC:
6:74310124 T / A
gnomAD v2:
6-74310124-T-A
gnomAD v4:
6-73600401-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600401T>A , CM000668.2:g.73600401T>A | GRCh38 |
| NC_000006.11:g.74310124T>A , CM000668.1:g.74310124T>A | GRCh37 |
| NC_000006.10:g.74366845T>A | NCBI36 |
| NG_008272.1:g.58614A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1300A>T MANE Select | ENSP00000348019.5:p.Thr434Ser | |
| ENST00000355773.5:c.1300A>T | ENSP00000348019.5:p.Thr434Ser | |
| NM_012434.4:c.1300A>T | NP_036566.1:p.Thr434Ser | |
| XM_005248710.2:c.1249A>T | XP_005248767.1:p.Thr417Ser | |
| XM_005248711.1:c.1102A>T | XP_005248768.1:p.Thr368Ser | |
| XM_011535750.1:c.1152A>T | XP_011534052.1:p.Pro384= | |
| NM_012434.5:c.1300A>T MANE Select | NP_036566.1:p.Thr434Ser | |
| NM_001382629.1:c.1069A>T | NP_001369558.1:p.Thr357Ser | |
| NM_001382630.1:c.1260-5187A>T | NP_001369559.1:n.1260-5187A>T | |
| NM_001382631.1:c.1321A>T | NP_001369560.1:p.Thr441Ser | |
| NM_001382632.1:c.1213A>T | NP_001369561.1:p.Thr405Ser | |
| NM_001382633.1:c.1300A>T | NP_001369562.1:p.Thr434Ser | |
| NM_001382634.1:c.1141A>T | NP_001369563.1:p.Thr381Ser | |
| NM_001382635.1:c.1297A>T | NP_001369564.1:p.Thr433Ser | |
| NM_001382636.1:c.982A>T | NP_001369565.1:p.Thr328Ser |