Linked Data
ClinVar Variation Id:
2834793
ClinVar RCV Id:
RCV003613963
MyVariant Identifiers:
chr6:g.74310122A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600399A>C , CM000668.2:g.73600399A>C | GRCh38 |
| NC_000006.11:g.74310122A>C , CM000668.1:g.74310122A>C | GRCh37 |
| NC_000006.10:g.74366843A>C | NCBI36 |
| NG_008272.1:g.58616T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1302T>G MANE Select | ENSP00000348019.5:p.Thr434= | |
| ENST00000355773.5:c.1302T>G | ENSP00000348019.5:p.Thr434= | |
| NM_012434.4:c.1302T>G | NP_036566.1:p.Thr434= | |
| XM_005248710.2:c.1251T>G | XP_005248767.1:p.Thr417= | |
| XM_005248711.1:c.1104T>G | XP_005248768.1:p.Thr368= | |
| XM_011535750.1:c.1154T>G | XP_011534052.1:p.Leu385Arg | |
| NM_012434.5:c.1302T>G MANE Select | NP_036566.1:p.Thr434= | |
| NM_001382629.1:c.1071T>G | NP_001369558.1:p.Thr357= | |
| NM_001382630.1:c.1260-5185T>G | NP_001369559.1:n.1260-5185T>G | |
| NM_001382631.1:c.1323T>G | NP_001369560.1:p.Thr441= | |
| NM_001382632.1:c.1215T>G | NP_001369561.1:p.Thr405= | |
| NM_001382633.1:c.1302T>G | NP_001369562.1:p.Thr434= | |
| NM_001382634.1:c.1143T>G | NP_001369563.1:p.Thr381= | |
| NM_001382635.1:c.1299T>G | NP_001369564.1:p.Thr433= | |
| NM_001382636.1:c.984T>G | NP_001369565.1:p.Thr328= |