Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58968503A>C , CM000670.2:g.58968503A>C | GRCh38 |
| NC_000008.10:g.59881062A>C , CM000670.1:g.59881062A>C | GRCh37 |
| NC_000008.9:g.60043616A>C | NCBI36 |
| NG_011993.1:g.155706T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361421.2:c.103-8495T>G MANE Select | ENSP00000354842.1:n.103-8495T>G | |
| ENST00000361421.1:c.103-8495T>G | ENSP00000354842.1:n.103-8495T>G | |
| NM_014729.2:c.103-8495T>G | NP_055544.1:n.103-8495T>G | |
| XM_017014085.1:c.103-28959T>G | XP_016869574.1:n.103-28959T>G | |
| NM_014729.3:c.103-8495T>G MANE Select | NP_055544.1:n.103-8495T>G |