Linked Data
dbSNP Id:
rs761392305
ExAC:
12:5153911 A / T
gnomAD v2:
12-5153911-A-T
gnomAD v3:
12-5044745-A-T
gnomAD v4:
12-5044745-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044745A>T , CM000674.2:g.5044745A>T | GRCh38 |
| NC_000012.11:g.5153911A>T , CM000674.1:g.5153911A>T | GRCh37 |
| NC_000012.10:g.5024172A>T | NCBI36 |
| NG_012198.1:g.5827A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.598A>T MANE Select | ENSP00000252321.3:p.Ile200Leu | |
| ENST00000252321.4:c.598A>T | ENSP00000252321.3:p.Ile200Leu | |
| NM_002234.3:c.598A>T | NP_002225.2:p.Ile200Leu | |
| NM_002234.4:c.598A>T MANE Select | NP_002225.2:p.Ile200Leu |