Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672262A= , CM000672.2:g.119672262A= | GRCh38 |
| NC_000010.10:g.121431774A= , CM000672.1:g.121431774A= | GRCh37 |
| NC_000010.9:g.121421764A= | NCBI36 |
| NG_016125.1:g.25893A= , LRG_742:g.25893A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.515A= MANE Select | ENSP00000358081.4:p.Gln172= | |
| ENST00000369085.7:c.515A= | ENSP00000358081.3:p.Gln172= | |
| ENST00000450186.1:c.341A= | ENSP00000410036.1:p.Gln114= | |
| NM_004281.3:c.515A= , LRG_742t1:c.515A= | NP_004272.2:p.Gln172= | |
| XM_005270287.1:c.515A= | XP_005270344.1:p.Gln172= | |
| XM_005270287.2:c.515A= | XP_005270344.1:p.Gln172= | |
| NM_004281.4:c.515A= MANE Select | NP_004272.2:p.Gln172= |