Linked Data
ClinVar Variation Id:
2962821
ClinVar RCV Id:
RCV003827931
MyVariant Identifiers:
chr6:g.143784097C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143462960C>T , CM000668.2:g.143462960C>T | GRCh38 |
| NC_000006.11:g.143784097C>T , CM000668.1:g.143784097C>T | GRCh37 |
| NC_000006.10:g.143825790C>T | NCBI36 |
| NG_008459.1:g.17180C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.250C>T MANE Select | ENSP00000356563.4:p.Leu84= | |
| ENST00000367591.4:c.250C>T | ENSP00000356563.4:p.Leu84= | |
| ENST00000367592.5:c.118C>T | ENSP00000356564.1:p.Leu40= | |
| NM_003630.2:c.250C>T | NP_003621.1:p.Leu84= | |
| NM_003630.3:c.250C>T MANE Select | NP_003621.1:p.Leu84= |