Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533790A>C , CM000681.2:g.7533790A>C | GRCh38 |
| NC_000019.9:g.7598676A>C , CM000681.1:g.7598676A>C | GRCh37 |
| NC_000019.8:g.7504676A>C | NCBI36 |
| NG_013374.1:g.4639A>C | |
| NG_015806.1:g.16181A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1738A>C MANE Select | ENSP00000264079.5:p.Asn580His | |
| ENST00000264079.10:c.1738A>C | ENSP00000264079.5:p.Asn580His | |
| ENST00000394321.9:n.2053A>C | ||
| ENST00000599334.1:c.466A>C | ||
| ENST00000601870.1:c.91A>C | ||
| ENST00000602227.1:n.292A>C | ||
| NM_020533.2:c.1738A>C | NP_065394.1:p.Asn580His | |
| NM_020533.3:c.1738A>C MANE Select | NP_065394.1:p.Asn580His |