Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16129587A>C , CM000681.2:g.16129587A>C | GRCh38 |
| NC_000019.9:g.16240397A>C , CM000681.1:g.16240397A>C | GRCh37 |
| NC_000019.8:g.16101397A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300935.8:c.514A>C MANE Select | ENSP00000300935.2:p.Lys172Gln | |
| ENST00000300935.7:c.514A>C | ENSP00000300935.2:p.Lys172Gln | |
| ENST00000586682.1:c.494A>C | ENSP00000467501.1:p.Lys165Thr | |
| ENST00000592971.1:n.175A>C | ||
| NM_005370.4:c.514A>C | NP_005361.2:p.Lys172Gln | |
| XM_011528020.1:c.514A>C | XP_011526322.1:p.Lys172Gln | |
| XM_011528020.3:c.514A>C | XP_011526322.1:p.Lys172Gln | |
| NM_005370.5:c.514A>C MANE Select | NP_005361.2:p.Lys172Gln |