Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162272266T>C , CM000664.2:g.162272266T>C | GRCh38 |
| NC_000002.11:g.163128776T>C , CM000664.1:g.163128776T>C | GRCh37 |
| NC_000002.10:g.162837022T>C | NCBI36 |
| NG_011495.1:g.51264A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022168.4:c.2576A>G MANE Select | NP_071451.2:p.His859Arg |
| ENST00000649979.2:c.2576A>G MANE Select | ENSP00000497271.1:p.His859Arg |
| NM_022168.3:c.2576A>G | NP_071451.2:p.His859Arg |
| ENST00000263642.2:c.2576A>G | ENSP00000263642.2:p.His859Arg |
| ENST00000648433.1:c.2459A>G | ENSP00000496816.1:p.His820Arg |
| ENST00000649554.1:n.2186A>G | |
| ENST00000679938.1:c.2264A>G | ENSP00000505518.1:p.His755Arg |
| ENST00000697291.1:c.*2173A>G | ENSP00000513228.1:n.*2173A>G |
| XM_011511628.1:c.1859A>G | XP_011509930.1:p.His620Arg |