Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197044T= , CM000666.2:g.186197044T= | GRCh38 |
| NC_000004.11:g.187118198T= , CM000666.1:g.187118198T= | GRCh37 |
| NC_000004.10:g.187355192T= | NCBI36 |
| NG_007965.1:g.10525T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207352.4:c.518T= MANE Select | NP_997235.3:p.Leu173= |
| ENST00000378802.5:c.518T= MANE Select | ENSP00000368079.4:p.Leu173= |
| NM_207352.3:c.518T= | NP_997235.3:p.Leu173= |
| ENST00000378802.4:c.518T= | ENSP00000368079.4:p.Leu173= |
| ENST00000507209.5:n.957T= | |
| XM_005262935.2:c.518T= | XP_005262992.1:p.Leu173= |
| XM_005262935.4:c.518T= | XP_005262992.1:p.Leu173= |
| XM_006714184.2:c.122T= | XP_006714247.1:p.Leu41= |
| XM_017008037.1:c.122T= | XP_016863526.1:p.Leu41= |