Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23118852G>A , CM000676.2:g.23118852G>A | GRCh38 |
| NC_000014.8:g.23588061G>A , CM000676.1:g.23588061G>A | GRCh37 |
| NC_000014.7:g.22657901G>A | NCBI36 |
| NG_009617.1:g.5414C>T , LRG_45:g.5414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696121.1:n.262-53C>T | ||
| ENST00000696122.1:n.43-57C>T | ||
| ENST00000206513.6:c.240C>T MANE Select | ENSP00000206513.5:p.Tyr80= | |
| ENST00000206513.5:c.240C>T | ENSP00000206513.5:p.Tyr80= | |
| NM_001805.3:c.240C>T | NP_001796.2:p.Tyr80= | |
| XM_011536359.1:c.248-53C>T | XP_011534661.1:n.248-53C>T | |
| NM_001805.4:c.240C>T MANE Select | NP_001796.2:p.Tyr80= |