Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536546T>C , CM000679.2:g.42536546T>C | GRCh38 |
| NC_000017.10:g.40688564T>C , CM000679.1:g.40688564T>C | GRCh37 |
| NC_000017.9:g.37942090T>C | NCBI36 |
| NG_011552.1:g.5614T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000263.4:c.274T>C MANE Select | NP_000254.2:p.Tyr92His |
| ENST00000225927.7:c.274T>C MANE Select | ENSP00000225927.1:p.Tyr92His |
| NM_000263.3:c.274T>C | NP_000254.2:p.Tyr92His |
| ENST00000225927.6:c.274T>C | ENSP00000225927.1:p.Tyr92His |
| ENST00000586516.5:c.24T>C | |
| ENST00000591587.1:c.17T>C | ENSP00000467836.1:p.Leu6Pro |
| XM_006721920.2:c.-469T>C | XP_006721983.1:n.-469T>C |
| XM_011524840.1:c.-469T>C | XP_011523142.1:n.-469T>C |
| XM_024450771.1:c.274T>C | XP_024306539.1:p.Tyr92His |