Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966411G>A , CM000681.2:g.48966411G>A | GRCh38 |
| NC_000019.9:g.49469668G>A , CM000681.1:g.49469668G>A | GRCh37 |
| NC_000019.8:g.54161480G>A | NCBI36 |
| NG_008152.1:g.6103G>A | |
| NG_012923.1:g.31943C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.375+5G>A MANE Select | NP_000137.2:n.375+5G>A |
| ENST00000331825.11:c.375+5G>A MANE Select | ENSP00000366525.2:n.375+5G>A |
| NM_000146.3:c.375+5G>A | NP_000137.2:n.375+5G>A |
| ENST00000331825.10:c.375+5G>A | ENSP00000366525.2:n.375+5G>A |
| ENST00000622577.2:c.375+5G>A | ENSP00000484043.1:n.375+5G>A |
| XM_024451447.1:c.885+5G>A | XP_024307215.1:n.885+5G>A |