Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58968500C>A , CM000670.2:g.58968500C>A | GRCh38 |
| NC_000008.10:g.59881059C>A , CM000670.1:g.59881059C>A | GRCh37 |
| NC_000008.9:g.60043613C>A | NCBI36 |
| NG_011993.1:g.155709G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361421.2:c.103-8492G>T MANE Select | ENSP00000354842.1:n.103-8492G>T | |
| ENST00000361421.1:c.103-8492G>T | ENSP00000354842.1:n.103-8492G>T | |
| NM_014729.2:c.103-8492G>T | NP_055544.1:n.103-8492G>T | |
| XM_017014085.1:c.103-28956G>T | XP_016869574.1:n.103-28956G>T | |
| NM_014729.3:c.103-8492G>T MANE Select | NP_055544.1:n.103-8492G>T |