Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672271C= , CM000672.2:g.119672271C= | GRCh38 |
| NC_000010.10:g.121431783C= , CM000672.1:g.121431783C= | GRCh37 |
| NC_000010.9:g.121421773C= | NCBI36 |
| NG_016125.1:g.25902C= , LRG_742:g.25902C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.524C= MANE Select | ENSP00000358081.4:p.Ala175= | |
| ENST00000369085.7:c.524C= | ENSP00000358081.3:p.Ala175= | |
| ENST00000450186.1:c.350C= | ENSP00000410036.1:p.Ala117= | |
| NM_004281.3:c.524C= , LRG_742t1:c.524C= | NP_004272.2:p.Ala175= | |
| XM_005270287.1:c.524C= | XP_005270344.1:p.Ala175= | |
| XM_005270287.2:c.524C= | XP_005270344.1:p.Ala175= | |
| NM_004281.4:c.524C= MANE Select | NP_004272.2:p.Ala175= |