Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88805516A>G , CM000678.2:g.88805516A>G | GRCh38 |
| NC_000016.9:g.88871924A>G , CM000678.1:g.88871924A>G | GRCh37 |
| NC_000016.8:g.87399425A>G | NCBI36 |
| NG_028266.1:g.6739A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301019.9:c.565A>G MANE Select | ENSP00000301019.4:p.Lys189Glu | |
| ENST00000301019.8:c.565A>G | ENSP00000301019.4:p.Lys189Glu | |
| ENST00000562747.1:n.271A>G | ||
| NM_030928.3:c.565A>G | NP_112190.2:p.Lys189Glu | |
| NM_030928.4:c.565A>G MANE Select | NP_112190.2:p.Lys189Glu |