Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714052G>T , CM000681.2:g.6714052G>T | GRCh38 |
| NC_000019.9:g.6714063G>T , CM000681.1:g.6714063G>T | GRCh37 |
| NC_000019.8:g.6665063G>T | NCBI36 |
| NG_009557.1:g.11600C>A , LRG_27:g.11600C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.590C>A | ENSP00000512083.1:p.Pro197His | |
| ENST00000245907.11:c.713C>A MANE Select | ENSP00000245907.4:p.Pro238His | |
| ENST00000245907.10:c.713C>A | ENSP00000245907.4:p.Pro238His | |
| ENST00000595577.1:n.217C>A | ||
| NM_000064.3:c.713C>A | NP_000055.2:p.Pro238His | |
| NM_000064.4:c.713C>A MANE Select | NP_000055.2:p.Pro238His |