Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6685129G= , CM000681.2:g.6685129G= | GRCh38 |
| NC_000019.9:g.6685140G= , CM000681.1:g.6685140G= | GRCh37 |
| NC_000019.8:g.6636140G= | NCBI36 |
| NG_009557.1:g.40523C= , LRG_27:g.40523C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695651.1:n.2176C= | ||
| ENST00000695653.1:c.1737C= | ENSP00000512084.1:p.Phe579= | |
| ENST00000695654.1:c.2853C= | ENSP00000512085.1:p.Phe951= | |
| ENST00000695690.1:n.19C= | ||
| ENST00000695691.1:n.19C= | ||
| ENST00000245907.11:c.3828C= MANE Select | ENSP00000245907.4:p.Phe1276= | |
| ENST00000245907.10:c.3828C= | ENSP00000245907.4:p.Phe1276= | |
| ENST00000596238.1:n.271C= | ||
| ENST00000601008.1:c.241+1617C= | ENSP00000471384.1:n.241+1617C= | |
| NM_000064.3:c.3828C= | NP_000055.2:p.Phe1276= | |
| NM_000064.4:c.3828C= MANE Select | NP_000055.2:p.Phe1276= |