Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147828056A>G , CM000667.2:g.147828056A>G | GRCh38 |
| NC_000005.9:g.147207619A>G , CM000667.1:g.147207619A>G | GRCh37 |
| NC_000005.8:g.147187812A>G | NCBI36 |
| NG_008356.2:g.16176T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379610.1:c.160T>C MANE Select | NP_001366539.1:p.Tyr54His |
| ENST00000296695.10:c.160T>C MANE Select | ENSP00000296695.5:p.Tyr54His |
| NM_001354966.1:c.160T>C | NP_001341895.1:p.Tyr54His |
| NM_001354966.2:c.160T>C | NP_001341895.1:p.Tyr54His |
| NM_003122.4:c.160T>C | NP_003113.2:p.Tyr54His |
| NM_003122.5:c.160T>C | NP_003113.2:p.Tyr54His |
| ENST00000296695.9:c.160T>C | ENSP00000296695.5:p.Tyr54His |
| ENST00000505722.1:n.75T>C | |
| ENST00000510027.2:c.160T>C | ENSP00000427376.1:p.Tyr54His |