Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672632G= , CM000672.2:g.119672632G= | GRCh38 |
| NC_000010.10:g.121432144G= , CM000672.1:g.121432144G= | GRCh37 |
| NC_000010.9:g.121422134G= | NCBI36 |
| NG_016125.1:g.26263G= , LRG_742:g.26263G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.885G= MANE Select | ENSP00000358081.4:p.Val295= | |
| ENST00000369085.7:c.885G= | ENSP00000358081.3:p.Val295= | |
| ENST00000450186.1:c.711G= | ENSP00000410036.1:p.Val237= | |
| NM_004281.3:c.885G= , LRG_742t1:c.885G= | NP_004272.2:p.Val295= | |
| XM_005270287.1:c.885G= | XP_005270344.1:p.Val295= | |
| XM_005270287.2:c.885G= | XP_005270344.1:p.Val295= | |
| NM_004281.4:c.885G= MANE Select | NP_004272.2:p.Val295= |