Linked Data
MyVariant Identifiers:
chr17:g.72759592G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763453G>A , CM000679.2:g.74763453G>A | GRCh38 |
| NC_000017.10:g.72759592G>A , CM000679.1:g.72759592G>A | GRCh37 |
| NC_000017.9:g.70271187G>A | NCBI36 |
| NG_013022.1:g.19830G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.690G>A MANE Select | ENSP00000262613.5:p.Val230= | |
| ENST00000262613.9:c.690G>A | ENSP00000262613.5:p.Val230= | |
| ENST00000413388.2:c.222G>A | ENSP00000464982.1:p.Val74= | |
| ENST00000578958.1:n.424G>A | ||
| ENST00000581356.1:c.26G>A | ||
| ENST00000583369.5:c.442-4694G>A | ENSP00000464321.1:n.442-4694G>A | |
| NM_004252.4:c.690G>A | NP_004243.1:p.Val230= | |
| XR_002958087.1:n.909G>A | ||
| NM_004252.5:c.690G>A MANE Select | NP_004243.1:p.Val230= |