Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119915548A>G , CM000663.2:g.119915548A>G | GRCh38 |
| NC_000001.10:g.120458171A>G , CM000663.1:g.120458171A>G | GRCh37 |
| NC_000001.9:g.120259694A>G | NCBI36 |
| NG_008163.1:g.159106T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256646.7:c.7174T>C MANE Select | ENSP00000256646.2:p.Tyr2392His | |
| ENST00000256646.6:c.7174T>C | ENSP00000256646.2:p.Tyr2392His | |
| NM_024408.3:c.7174T>C | NP_077719.2:p.Tyr2392His | |
| XM_005270901.2:c.7057T>C | XP_005270958.1:p.Tyr2353His | |
| XM_011541519.1:c.7162T>C | XP_011539821.1:p.Tyr2388His | |
| XM_011541520.1:c.7057T>C | XP_011539822.1:p.Tyr2353His | |
| NM_024408.4:c.7174T>C MANE Select | NP_077719.2:p.Tyr2392His |