Linked Data
MyVariant Identifiers:
chr1:g.59248224G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782552G>A , CM000663.2:g.58782552G>A | GRCh38 |
| NC_000001.10:g.59248224G>A , CM000663.1:g.59248224G>A | GRCh37 |
| NC_000001.9:g.59020812G>A | NCBI36 |
| NG_047027.1:g.6562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.585C>T | ENSP00000518166.1:p.Leu195= | |
| ENST00000371222.4:c.519C>T MANE Select | ENSP00000360266.2:p.Leu173= | |
| ENST00000678696.1:c.519C>T | ENSP00000503132.1:p.Leu173= | |
| ENST00000371222.3:c.519C>T | ENSP00000360266.2:p.Leu173= | |
| NM_002228.3:c.519C>T | NP_002219.1:p.Leu173= | |
| NM_002228.4:c.519C>T MANE Select | NP_002219.1:p.Leu173= |