Linked Data
gnomAD v4:
5-1213496-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213496G>T , CM000667.2:g.1213496G>T | GRCh38 |
| NC_000005.9:g.1213611G>T , CM000667.1:g.1213611G>T | GRCh37 |
| NC_000005.8:g.1266611G>T | NCBI36 |
| NG_008282.1:g.16902G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.697G>T MANE Select | ENSP00000305302.10:p.Val233Phe | |
| ENST00000304460.10:c.697G>T | ENSP00000305302.10:p.Val233Phe | |
| ENST00000515652.5:c.605G>T | ENSP00000425701.1:p.Arg202Leu | |
| NM_001003841.2:c.697G>T | NP_001003841.1:p.Val233Phe | |
| NM_001003841.3:c.697G>T MANE Select | NP_001003841.1:p.Val233Phe |