Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86628994A>G , CM000670.2:g.86628994A>G | GRCh38 |
| NC_000008.10:g.87641222A>G , CM000670.1:g.87641222A>G | GRCh37 |
| NC_000008.9:g.87710338A>G | NCBI36 |
| NG_016980.1:g.119682T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.1405T>C MANE Select | NP_061971.3:p.Tyr469His |
| ENST00000320005.6:c.1405T>C MANE Select | ENSP00000316605.5:p.Tyr469His |
| NM_019098.4:c.1405T>C | NP_061971.3:p.Tyr469His |
| ENST00000320005.5:c.1405T>C | ENSP00000316605.5:p.Tyr469His |
| ENST00000681546.1:n.1225T>C | |
| ENST00000681746.1:c.1405T>C | ENSP00000505959.1:p.Tyr469His |
| XM_011517138.1:c.991T>C | XP_011515440.1:p.Tyr331His |
| XM_011517138.2:c.991T>C | XP_011515440.1:p.Tyr331His |