Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213485T>C , CM000667.2:g.1213485T>C | GRCh38 |
| NC_000005.9:g.1213600T>C , CM000667.1:g.1213600T>C | GRCh37 |
| NC_000005.8:g.1266600T>C | NCBI36 |
| NG_008282.1:g.16891T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.686T>C MANE Select | ENSP00000305302.10:p.Leu229Pro | |
| ENST00000304460.10:c.686T>C | ENSP00000305302.10:p.Leu229Pro | |
| ENST00000515652.5:c.594T>C | ENSP00000425701.1:p.Ala198= | |
| NM_001003841.2:c.686T>C | NP_001003841.1:p.Leu229Pro | |
| NM_001003841.3:c.686T>C MANE Select | NP_001003841.1:p.Leu229Pro |