Linked Data
MyVariant Identifiers:
chr1:g.160394919G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160425129G>A , CM000663.2:g.160425129G>A | GRCh38 |
| NC_000001.10:g.160394919G>A , CM000663.1:g.160394919G>A | GRCh37 |
| NC_000001.9:g.158661543G>A | NCBI36 |
| NG_023420.1:g.29556G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696602.1:c.1461G>A | ENSP00000512747.1:p.Glu487= | |
| ENST00000368061.3:c.1317G>A MANE Select | ENSP00000357040.2:p.Glu439= | |
| ENST00000368061.2:c.1317G>A | ENSP00000357040.2:p.Glu439= | |
| NM_020335.2:c.1317G>A | NP_065068.1:p.Glu439= | |
| XM_005245357.1:c.1317G>A | XP_005245414.1:p.Glu439= | |
| XM_011509804.1:c.1317G>A | XP_011508106.1:p.Glu439= | |
| NM_020335.3:c.1317G>A MANE Select | NP_065068.1:p.Glu439= |