Linked Data
dbSNP Id:
rs370442773
ExAC:
5:1213587 A / C
gnomAD v3:
5-1213472-A-C
gnomAD v4:
5-1213472-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213472A>C , CM000667.2:g.1213472A>C | GRCh38 |
| NC_000005.9:g.1213587A>C , CM000667.1:g.1213587A>C | GRCh37 |
| NC_000005.8:g.1266587A>C | NCBI36 |
| NG_008282.1:g.16878A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.673A>C MANE Select | ENSP00000305302.10:p.Ile225Leu | |
| ENST00000304460.10:c.673A>C | ENSP00000305302.10:p.Ile225Leu | |
| ENST00000515652.5:c.581A>C | ENSP00000425701.1:p.His194Pro | |
| NM_001003841.2:c.673A>C | NP_001003841.1:p.Ile225Leu | |
| NM_001003841.3:c.673A>C MANE Select | NP_001003841.1:p.Ile225Leu |