Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659263C>T , CM000685.2:g.136659263C>T | GRCh38 |
| NC_000023.10:g.135741422C>T , CM000685.1:g.135741422C>T | GRCh37 |
| NC_000023.9:g.135569088C>T | NCBI36 |
| NG_007280.1:g.16087C>T , LRG_141:g.16087C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*252C>T | ENSP00000512122.1:n.*252C>T | |
| ENST00000695725.1:c.*189C>T | ENSP00000512123.1:n.*189C>T | |
| ENST00000695726.1:n.2602C>T | ||
| ENST00000695729.1:n.3437C>T | ||
| ENST00000370629.7:c.634C>T MANE Select | ENSP00000359663.2:p.His212Tyr | |
| ENST00000370628.2:c.571C>T | ENSP00000359662.2:p.His191Tyr | |
| ENST00000370629.6:c.634C>T | ENSP00000359663.2:p.His212Tyr | |
| NM_000074.2:c.634C>T , LRG_141t1:c.634C>T | NP_000065.1:p.His212Tyr | |
| NM_000074.3:c.634C>T MANE Select | NP_000065.1:p.His212Tyr |