Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6685126T= , CM000681.2:g.6685126T= | GRCh38 |
| NC_000019.9:g.6685137T= , CM000681.1:g.6685137T= | GRCh37 |
| NC_000019.8:g.6636137T= | NCBI36 |
| NG_009557.1:g.40526A= , LRG_27:g.40526A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695651.1:n.2179A= | ||
| ENST00000695653.1:c.1740A= | ENSP00000512084.1:p.Gln580= | |
| ENST00000695654.1:c.2856A= | ENSP00000512085.1:p.Gln952= | |
| ENST00000695690.1:n.22A= | ||
| ENST00000695691.1:n.22A= | ||
| ENST00000245907.11:c.3831A= MANE Select | ENSP00000245907.4:p.Gln1277= | |
| ENST00000245907.10:c.3831A= | ENSP00000245907.4:p.Gln1277= | |
| ENST00000596238.1:n.274A= | ||
| ENST00000601008.1:c.241+1620A= | ENSP00000471384.1:n.241+1620A= | |
| NM_000064.3:c.3831A= | NP_000055.2:p.Gln1277= | |
| NM_000064.4:c.3831A= MANE Select | NP_000055.2:p.Gln1277= |