Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526776G>C , CM000681.2:g.7526776G>C | GRCh38 |
| NC_000019.9:g.7591662G>C , CM000681.1:g.7591662G>C | GRCh37 |
| NC_000019.8:g.7497662G>C | NCBI36 |
| NG_015806.1:g.9167G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.421G>C MANE Select | ENSP00000264079.5:p.Asp141His | |
| ENST00000264079.10:c.421G>C | ENSP00000264079.5:p.Asp141His | |
| ENST00000394321.9:n.501G>C | ||
| ENST00000596008.1:n.383G>C | ||
| ENST00000598406.1:n.242G>C | ||
| ENST00000601003.1:c.421G>C | ENSP00000469074.1:p.Asp141His | |
| NM_020533.2:c.421G>C | NP_065394.1:p.Asp141His | |
| NM_020533.3:c.421G>C MANE Select | NP_065394.1:p.Asp141His |