Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151251126T>C , CM000664.2:g.151251126T>C | GRCh38 |
| NC_000002.11:g.152107640T>C , CM000664.1:g.152107640T>C | GRCh37 |
| NC_000002.10:g.151815886T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331426.6:c.854A>G MANE Select | ENSP00000331211.5:p.His285Arg | |
| ENST00000331426.5:c.854A>G | ENSP00000331211.5:p.His285Arg | |
| NM_198557.2:c.854A>G | NP_940959.1:p.His285Arg | |
| XM_011511146.1:c.863A>G | XP_011509448.1:p.His288Arg | |
| NM_198557.3:c.854A>G MANE Select | NP_940959.1:p.His285Arg |