Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58968533G>T , CM000670.2:g.58968533G>T | GRCh38 |
| NC_000008.10:g.59881092G>T , CM000670.1:g.59881092G>T | GRCh37 |
| NC_000008.9:g.60043646G>T | NCBI36 |
| NG_011993.1:g.155676C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361421.2:c.103-8525C>A MANE Select | ENSP00000354842.1:n.103-8525C>A | |
| ENST00000361421.1:c.103-8525C>A | ENSP00000354842.1:n.103-8525C>A | |
| NM_014729.2:c.103-8525C>A | NP_055544.1:n.103-8525C>A | |
| XM_017014085.1:c.103-28989C>A | XP_016869574.1:n.103-28989C>A | |
| NM_014729.3:c.103-8525C>A MANE Select | NP_055544.1:n.103-8525C>A |