Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233618420C>T , CM000664.2:g.233618420C>T | GRCh38 |
| NC_000002.11:g.234527066C>T , CM000664.1:g.234527066C>T | GRCh37 |
| NC_000002.10:g.234191805C>T | NCBI36 |
| NG_002601.2:g.33677C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373450.5:c.713C>T MANE Select | ENSP00000362549.4:p.Pro238Leu | |
| ENST00000373450.4:c.713C>T | ENSP00000362549.4:p.Pro238Leu | |
| NM_019076.4:c.713C>T | NP_061949.3:p.Pro238Leu | |
| NM_019076.5:c.713C>T MANE Select | NP_061949.3:p.Pro238Leu |