Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601771A>C , CM000672.2:g.110601771A>C | GRCh38 |
| NC_000010.10:g.112361529A>C , CM000672.1:g.112361529A>C | GRCh37 |
| NC_000010.9:g.112351519A>C | NCBI36 |
| NG_012217.1:g.39081A>C , LRG_774:g.39081A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5012A>C | ||
| ENST00000685743.1:n.2487A>C | ||
| ENST00000686057.1:n.1130A>C | ||
| ENST00000689321.1:n.1742A>C | ||
| ENST00000689986.1:n.568A>C | ||
| ENST00000361804.5:c.2779A>C MANE Select | ENSP00000354720.5:p.Asn927His | |
| ENST00000361804.4:c.2779A>C | ENSP00000354720.4:p.Asn927His | |
| NM_005445.3:c.2779A>C , LRG_774t1:c.2779A>C | NP_005436.1:p.Asn927His | |
| NM_005445.4:c.2779A>C MANE Select | NP_005436.1:p.Asn927His |