Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40313749C>A , CM000679.2:g.40313749C>A | GRCh38 |
| NC_000017.10:g.38470001C>A , CM000679.1:g.38470001C>A | GRCh37 |
| NC_000017.9:g.35723527C>A | NCBI36 |
| NG_027701.1:g.9579C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254066.10:c.-363+4463C>A MANE Select | ENSP00000254066.5:n.-363+4463C>A | |
| ENST00000254066.9:c.-363+4463C>A | ENSP00000254066.5:n.-363+4463C>A | |
| ENST00000577646.5:c.-440+4463C>A | ENSP00000464287.1:n.-440+4463C>A | |
| NM_000964.3:c.-363+4463C>A | NP_000955.1:n.-363+4463C>A | |
| XM_011525095.1:c.-440+4463C>A | XP_011523397.1:n.-440+4463C>A | |
| NM_000964.4:c.-363+4463C>A MANE Select | NP_000955.1:n.-363+4463C>A |