Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29451496G>A , CM000679.2:g.29451496G>A | GRCh38 |
| NC_000017.10:g.27778514G>A , CM000679.1:g.27778514G>A | GRCh37 |
| NC_000017.9:g.24802640G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.-53G>A MANE Select | ENSP00000261716.3:n.-53G>A | |
| ENST00000261716.7:c.-53G>A | ENSP00000261716.3:n.-53G>A | |
| ENST00000536202.1:c.-53G>A | ENSP00000438819.1:n.-53G>A | |
| ENST00000583121.5:c.-53G>A | ENSP00000464562.1:n.-53G>A | |
| ENST00000587277.1:n.142G>A | ||
| NM_020791.2:c.-53G>A | NP_065842.1:n.-53G>A | |
| NM_025142.1:c.-53G>A | NP_079418.1:n.-53G>A | |
| XM_011525060.1:c.-53G>A | XP_011523362.1:n.-53G>A | |
| XM_011525060.2:c.-53G>A | XP_011523362.1:n.-53G>A | |
| NM_020791.4:c.-53G>A MANE Select | NP_065842.1:n.-53G>A |