Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672252C>A , CM000672.2:g.119672252C>A | GRCh38 |
| NC_000010.10:g.121431764C>A , CM000672.1:g.121431764C>A | GRCh37 |
| NC_000010.9:g.121421754C>A | NCBI36 |
| NG_016125.1:g.25883C>A , LRG_742:g.25883C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.508-3C>A MANE Select | ENSP00000358081.4:n.508-3C>A | |
| ENST00000369085.7:c.508-3C>A | ENSP00000358081.3:n.508-3C>A | |
| ENST00000450186.1:c.334-3C>A | ENSP00000410036.1:n.334-3C>A | |
| NM_004281.3:c.508-3C>A , LRG_742t1:c.508-3C>A | NP_004272.2:n.508-3C>A | |
| XM_005270287.1:c.508-3C>A | XP_005270344.1:n.508-3C>A | |
| XM_005270287.2:c.508-3C>A | XP_005270344.1:n.508-3C>A | |
| NM_004281.4:c.508-3C>A MANE Select | NP_004272.2:n.508-3C>A |