Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993331G>T , CM000678.2:g.30993331G>T | GRCh38 |
| NC_000016.9:g.31004652G>T , CM000678.1:g.31004652G>T | GRCh37 |
| NC_000016.8:g.30912153G>T | NCBI36 |
| NG_041829.1:g.22178C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.675+16C>A MANE Select | ENSP00000215095.5:n.675+16C>A | |
| ENST00000565419.2:c.675+16C>A | ENSP00000455899.1:n.675+16C>A | |
| ENST00000215095.9:c.675+16C>A | ENSP00000215095.5:n.675+16C>A | |
| ENST00000565419.1:c.675+16C>A | ENSP00000455899.1:n.675+16C>A | |
| ENST00000569638.5:c.423+16C>A | ENSP00000457067.1:n.423+16C>A | |
| NM_052874.4:c.675+16C>A | NP_443106.1:n.675+16C>A | |
| XM_017022893.1:c.657+16C>A | XP_016878382.1:n.657+16C>A | |
| NM_052874.5:c.675+16C>A MANE Select | NP_443106.1:n.675+16C>A |