Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966149G>A , CM000681.2:g.48966149G>A | GRCh38 |
| NC_000019.9:g.49469406G>A , CM000681.1:g.49469406G>A | GRCh37 |
| NC_000019.8:g.54161218G>A | NCBI36 |
| NG_008152.1:g.5841G>A | |
| NG_012923.1:g.32205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.250-132G>A MANE Select | ENSP00000366525.2:n.250-132G>A | |
| ENST00000331825.10:c.250-132G>A | ENSP00000366525.2:n.250-132G>A | |
| ENST00000622577.2:c.250-132G>A | ENSP00000484043.1:n.250-132G>A | |
| NM_000146.3:c.250-132G>A | NP_000137.2:n.250-132G>A | |
| XM_024451447.1:c.760-132G>A | XP_024307215.1:n.760-132G>A | |
| NM_000146.4:c.250-132G>A MANE Select | NP_000137.2:n.250-132G>A |