Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85216801G>T , CM000664.2:g.85216801G>T | GRCh38 |
| NC_000002.11:g.85443924G>T , CM000664.1:g.85443924G>T | GRCh37 |
| NC_000002.10:g.85297435G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031283.3:c.442-66694G>T MANE Select | NP_112573.1:n.442-66694G>T |
| ENST00000282111.4:c.442-66694G>T MANE Select | ENSP00000282111.3:n.442-66694G>T |
| NM_031283.2:c.442-66694G>T | NP_112573.1:n.442-66694G>T |
| NR_136323.1:n.43-219G>T | |
| ENST00000282111.3:c.442-66694G>T | ENSP00000282111.3:n.442-66694G>T |
| ENST00000442813.1:c.-402-219G>T | ENSP00000388984.1:n.-402-219G>T |
| XM_006712109.2:c.442-66694G>T | XP_006712172.1:n.442-66694G>T |
| XR_427050.1:n.85-219G>T |