Linked Data
MyVariant Identifiers:
chr17:g.28548671G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30221653G>T , CM000679.2:g.30221653G>T | GRCh38 |
| NC_000017.10:g.28548671G>T , CM000679.1:g.28548671G>T | GRCh37 |
| NC_000017.9:g.25572797G>T | NCBI36 |
| NG_011747.2:g.19284C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.306C>A MANE Select | ENSP00000498537.1:p.Val102= | |
| ENST00000261707.7:c.306C>A | ENSP00000261707.3:p.Val102= | |
| ENST00000394821.2:c.306C>A | ENSP00000378298.2:p.Val102= | |
| ENST00000401766.6:c.306C>A | ENSP00000385822.2:p.Val102= | |
| NM_001045.5:c.306C>A | NP_001036.1:p.Val102= | |
| NM_001045.6:c.306C>A MANE Select | NP_001036.1:p.Val102= |