Linked Data
ClinVar Variation Id:
2864113
ClinVar RCV Id:
RCV003702604
gnomAD v4:
17-1650919-C-T
MyVariant Identifiers:
chr17:g.1554213C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650919C>T , CM000679.2:g.1650919C>T | GRCh38 |
| NC_000017.10:g.1554213C>T , CM000679.1:g.1554213C>T | GRCh37 |
| NC_000017.9:g.1500963C>T | NCBI36 |
| NG_009118.1:g.38964G>A | |
| NG_033061.1:g.4180G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6711G>A | ENSP00000460849.2:p.Gln2237= | |
| ENST00000703537.1:c.2639G>A | ||
| ENST00000703538.1:c.*6614G>A | ENSP00000515361.1:n.*6614G>A | |
| ENST00000703539.1:n.3205G>A | ||
| ENST00000703540.1:c.6744G>A | ENSP00000515362.1:p.Gln2248= | |
| ENST00000703541.1:c.6756G>A | ENSP00000515363.1:p.Gln2252= | |
| ENST00000304992.11:c.6891G>A MANE Select | ENSP00000304350.6:p.Gln2297= | |
| ENST00000304992.10:c.6891G>A | ENSP00000304350.6:p.Gln2297= | |
| ENST00000571958.1:c.163-73G>A | ||
| ENST00000572621.5:c.6891G>A | ENSP00000460348.1:p.Gln2297= | |
| ENST00000572723.1:n.880G>A | ||
| NM_006445.3:c.6891G>A | NP_006436.3:p.Gln2297= | |
| XM_024450537.1:c.6891G>A | XP_024306305.1:p.Gln2297= | |
| NM_006445.4:c.6891G>A MANE Select | NP_006436.3:p.Gln2297= |