Linked Data
MyVariant Identifiers:
chr5:g.1213646G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213531G>T , CM000667.2:g.1213531G>T | GRCh38 |
| NC_000005.9:g.1213646G>T , CM000667.1:g.1213646G>T | GRCh37 |
| NC_000005.8:g.1266646G>T | NCBI36 |
| NG_008282.1:g.16937G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.732G>T MANE Select | ENSP00000305302.10:p.Leu244= | |
| ENST00000304460.10:c.732G>T | ENSP00000305302.10:p.Leu244= | |
| ENST00000515652.5:c.640G>T | ENSP00000425701.1:p.Glu214Ter | |
| NM_001003841.2:c.732G>T | NP_001003841.1:p.Leu244= | |
| NM_001003841.3:c.732G>T MANE Select | NP_001003841.1:p.Leu244= |