Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6685131A= , CM000681.2:g.6685131A= | GRCh38 |
| NC_000019.9:g.6685142A= , CM000681.1:g.6685142A= | GRCh37 |
| NC_000019.8:g.6636142A= | NCBI36 |
| NG_009557.1:g.40521T= , LRG_27:g.40521T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695651.1:n.2174T= | ||
| ENST00000695653.1:c.1735T= | ENSP00000512084.1:p.Phe579= | |
| ENST00000695654.1:c.2851T= | ENSP00000512085.1:p.Phe951= | |
| ENST00000695690.1:n.17T= | ||
| ENST00000695691.1:n.17T= | ||
| ENST00000245907.11:c.3826T= MANE Select | ENSP00000245907.4:p.Phe1276= | |
| ENST00000245907.10:c.3826T= | ENSP00000245907.4:p.Phe1276= | |
| ENST00000596238.1:n.269T= | ||
| ENST00000601008.1:c.241+1615T= | ENSP00000471384.1:n.241+1615T= | |
| NM_000064.3:c.3826T= | NP_000055.2:p.Phe1276= | |
| NM_000064.4:c.3826T= MANE Select | NP_000055.2:p.Phe1276= |