Linked Data
MyVariant Identifiers:
chr17:g.39740060C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583808C>T , CM000679.2:g.41583808C>T | GRCh38 |
| NC_000017.10:g.39740060C>T , CM000679.1:g.39740060C>T | GRCh37 |
| NC_000017.9:g.36993586C>T | NCBI36 |
| NG_008624.1:g.8088G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.879G>A MANE Select | ENSP00000167586.6:p.Lys293= | |
| ENST00000167586.6:c.879G>A | ENSP00000167586.6:p.Lys293= | |
| ENST00000476662.1:n.329G>A | ||
| NM_000526.4:c.879G>A | NP_000517.2:p.Lys293= | |
| NM_000526.5:c.879G>A MANE Select | NP_000517.3:p.Lys293= |