Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135789701A>C , CM000664.2:g.135789701A>C | GRCh38 |
| NC_000002.11:g.136547271A>C , CM000664.1:g.136547271A>C | GRCh37 |
| NC_000002.10:g.136263741A>C | NCBI36 |
| NG_008104.2:g.70469T>G , LRG_338:g.70469T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.5433T>G MANE Select | ENSP00000264162.2:p.His1811Gln | |
| ENST00000264162.6:c.5433T>G | ENSP00000264162.2:p.His1811Gln | |
| NM_002299.2:c.5433T>G , LRG_338t1:c.5433T>G | NP_002290.2:p.His1811Gln | |
| NM_002299.3:c.5433T>G | NP_002290.2:p.His1811Gln | |
| NM_002299.4:c.5433T>G MANE Select | NP_002290.2:p.His1811Gln |