Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23394007T>A , CM000685.2:g.23394007T>A | GRCh38 |
| NC_000023.10:g.23412124T>A , CM000685.1:g.23412124T>A | GRCh37 |
| NC_000023.9:g.23322045T>A | NCBI36 |
| NG_021300.1:g.64140T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379361.5:c.2489T>A MANE Select | ENSP00000368666.4:p.Ile830Lys | |
| ENST00000379361.4:c.2489T>A | ENSP00000368666.4:p.Ile830Lys | |
| NM_173495.2:c.2489T>A | NP_775766.2:p.Ile830Lys | |
| XM_011545449.1:c.2489T>A | XP_011543751.1:p.Ile830Lys | |
| XM_011545449.3:c.2489T>A | XP_011543751.1:p.Ile830Lys | |
| NM_173495.3:c.2489T>A MANE Select | NP_775766.2:p.Ile830Lys |