Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672122A>G , CM000672.2:g.119672122A>G | GRCh38 |
| NC_000010.10:g.121431634A>G , CM000672.1:g.121431634A>G | GRCh37 |
| NC_000010.9:g.121421624A>G | NCBI36 |
| NG_016125.1:g.25753A>G , LRG_742:g.25753A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.508-133A>G MANE Select | ENSP00000358081.4:n.508-133A>G | |
| ENST00000369085.7:c.508-133A>G | ENSP00000358081.3:n.508-133A>G | |
| ENST00000450186.1:c.334-133A>G | ENSP00000410036.1:n.334-133A>G | |
| NM_004281.3:c.508-133A>G , LRG_742t1:c.508-133A>G | NP_004272.2:n.508-133A>G | |
| XM_005270287.1:c.508-133A>G | XP_005270344.1:n.508-133A>G | |
| XM_005270287.2:c.508-133A>G | XP_005270344.1:n.508-133A>G | |
| NM_004281.4:c.508-133A>G MANE Select | NP_004272.2:n.508-133A>G |