Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29511030C= , CM000679.2:g.29511030C= | GRCh38 |
| NC_000017.10:g.27838048C= , CM000679.1:g.27838048C= | GRCh37 |
| NC_000017.9:g.24862174C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.1704+38C= MANE Select | ENSP00000261716.3:n.1704+38C= | |
| ENST00000261716.7:c.1704+38C= | ENSP00000261716.3:n.1704+38C= | |
| ENST00000536202.1:c.1704+38C= | ENSP00000438819.1:n.1704+38C= | |
| ENST00000577583.1:n.1590C= | ||
| NM_020791.2:c.1704+38C= | NP_065842.1:n.1704+38C= | |
| NM_025142.1:c.1704+38C= | NP_079418.1:n.1704+38C= | |
| XM_011525060.1:c.1704+38C= | XP_011523362.1:n.1704+38C= | |
| XM_011525060.2:c.1704+38C= | XP_011523362.1:n.1704+38C= | |
| NM_020791.4:c.1704+38C= MANE Select | NP_065842.1:n.1704+38C= |