Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48419719G>C , CM000681.2:g.48419719G>C | GRCh38 |
| NC_000019.9:g.48922976G>C , CM000681.1:g.48922976G>C | GRCh37 |
| NC_000019.8:g.53614788G>C | NCBI36 |
| NG_052829.1:g.29845G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263269.4:c.1996G>C MANE Select | ENSP00000263269.2:p.Ala666Pro | |
| ENST00000263269.3:c.1996G>C | ENSP00000263269.2:p.Ala666Pro | |
| NM_000836.2:c.1996G>C | NP_000827.2:p.Ala666Pro | |
| XM_011526872.1:c.1996G>C | XP_011525174.1:p.Ala666Pro | |
| NM_000836.4:c.1996G>C MANE Select | NP_000827.2:p.Ala666Pro |