Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714026T>G , CM000681.2:g.6714026T>G | GRCh38 |
| NC_000019.9:g.6714037T>G , CM000681.1:g.6714037T>G | GRCh37 |
| NC_000019.8:g.6665037T>G | NCBI36 |
| NG_009557.1:g.11626A>C , LRG_27:g.11626A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.616A>C | ENSP00000512083.1:p.Asn206His | |
| ENST00000245907.11:c.739A>C MANE Select | ENSP00000245907.4:p.Asn247His | |
| ENST00000245907.10:c.739A>C | ENSP00000245907.4:p.Asn247His | |
| ENST00000595577.1:n.243A>C | ||
| NM_000064.3:c.739A>C | NP_000055.2:p.Asn247His | |
| NM_000064.4:c.739A>C MANE Select | NP_000055.2:p.Asn247His |