Linked Data
dbSNP Id:
rs1746110985
gnomAD v3:
5-1213486-G-T
gnomAD v4:
5-1213486-G-T
MyVariant Identifiers:
chr5:g.1213601G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213486G>T , CM000667.2:g.1213486G>T | GRCh38 |
| NC_000005.9:g.1213601G>T , CM000667.1:g.1213601G>T | GRCh37 |
| NC_000005.8:g.1266601G>T | NCBI36 |
| NG_008282.1:g.16892G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.687G>T MANE Select | ENSP00000305302.10:p.Leu229= | |
| ENST00000304460.10:c.687G>T | ENSP00000305302.10:p.Leu229= | |
| ENST00000515652.5:c.595G>T | ENSP00000425701.1:p.Ala199Ser | |
| NM_001003841.2:c.687G>T | NP_001003841.1:p.Leu229= | |
| NM_001003841.3:c.687G>T MANE Select | NP_001003841.1:p.Leu229= |