Linked Data
MyVariant Identifiers:
chr1:g.59042400T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576728T>A , CM000663.2:g.58576728T>A | GRCh38 |
| NC_000001.10:g.59042400T>A , CM000663.1:g.59042400T>A | GRCh37 |
| NC_000001.9:g.58814988T>A | NCBI36 |
| NG_016237.1:g.5767A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.429A>T MANE Select | ENSP00000360269.2:p.Leu143= | |
| ENST00000371225.3:c.429A>T | ENSP00000360269.2:p.Leu143= | |
| NM_002353.2:c.429A>T | NP_002344.2:p.Leu143= | |
| NM_002353.3:c.429A>T MANE Select | NP_002344.2:p.Leu143= |