Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075219C= , CM000664.2:g.38075219C= | GRCh38 |
| NC_000002.11:g.38302362C= , CM000664.1:g.38302362C= | GRCh37 |
| NC_000002.10:g.38155866C= | NCBI36 |
| NG_008386.2:g.5883G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000104.4:c.170G= MANE Select | NP_000095.2:p.Trp57= |
| ENST00000610745.5:c.170G= MANE Select | ENSP00000478561.1:p.Trp57= |
| NM_000104.3:c.170G= | NP_000095.2:p.Trp57= |
| ENST00000490576.1:c.170G= | ENSP00000478839.1:p.Trp57= |
| ENST00000490576.2:c.170G= | ENSP00000478839.2:p.Trp57= |
| ENST00000494864.1:c.-70-3909G= | ENSP00000479876.1:n.-70-3909G= |
| ENST00000610745.4:c.170G= | ENSP00000478561.1:p.Trp57= |
| ENST00000613082.1:n.375+561G= | |
| ENST00000614273.1:c.170G= | ENSP00000483678.1:p.Trp57= |