Linked Data
ClinVar Variation Id:
2863680
ClinVar RCV Id:
RCV003614919
gnomAD v4:
6-73600384-A-G
MyVariant Identifiers:
chr6:g.74310107A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600384A>G , CM000668.2:g.73600384A>G | GRCh38 |
| NC_000006.11:g.74310107A>G , CM000668.1:g.74310107A>G | GRCh37 |
| NC_000006.10:g.74366828A>G | NCBI36 |
| NG_008272.1:g.58631T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1317T>C MANE Select | ENSP00000348019.5:p.Val439= | |
| ENST00000355773.5:c.1317T>C | ENSP00000348019.5:p.Val439= | |
| NM_012434.4:c.1317T>C | NP_036566.1:p.Val439= | |
| XM_005248710.2:c.1266T>C | XP_005248767.1:p.Val422= | |
| XM_005248711.1:c.1119T>C | XP_005248768.1:p.Val373= | |
| XM_011535750.1:c.1169T>C | XP_011534052.1:p.Leu390Ser | |
| NM_012434.5:c.1317T>C MANE Select | NP_036566.1:p.Val439= | |
| NM_001382629.1:c.1086T>C | NP_001369558.1:p.Val362= | |
| NM_001382630.1:c.1260-5170T>C | NP_001369559.1:n.1260-5170T>C | |
| NM_001382631.1:c.1338T>C | NP_001369560.1:p.Val446= | |
| NM_001382632.1:c.1230T>C | NP_001369561.1:p.Val410= | |
| NM_001382633.1:c.1317T>C | NP_001369562.1:p.Val439= | |
| NM_001382634.1:c.1158T>C | NP_001369563.1:p.Val386= | |
| NM_001382635.1:c.1314T>C | NP_001369564.1:p.Val438= | |
| NM_001382636.1:c.999T>C | NP_001369565.1:p.Val333= |