Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89350861T= , CM000674.2:g.89350861T= | GRCh38 |
| NC_000012.11:g.89744638T= , CM000674.1:g.89744638T= | GRCh37 |
| NC_000012.10:g.88268769T= | NCBI36 |
| NG_033915.1:g.6999A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279488.8:c.565A= MANE Select | ENSP00000279488.6:p.Asn189= | |
| ENST00000279488.7:c.565A= | ENSP00000279488.6:p.Asn189= | |
| ENST00000308385.6:c.400+779A= | ENSP00000307835.6:n.400+779A= | |
| ENST00000547140.1:n.251A= | ||
| ENST00000547291.1:c.190A= | ENSP00000449838.1:p.Asn64= | |
| NM_001946.3:c.565A= | NP_001937.2:p.Asn189= | |
| NM_022652.3:c.400+779A= | NP_073143.2:n.400+779A= | |
| NM_001946.4:c.565A= MANE Select | NP_001937.2:p.Asn189= | |
| NM_022652.4:c.400+779A= | NP_073143.2:n.400+779A= |