Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624242T>G , CM000679.2:g.41624242T>G | GRCh38 |
| NC_000017.10:g.39780494T>G , CM000679.1:g.39780494T>G | GRCh37 |
| NC_000017.9:g.37034020T>G | NCBI36 |
| NG_008625.1:g.5389A>C | |
| NG_009090.2:g.167471A>C , LRG_401:g.167471A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.268A>C MANE Select | ENSP00000308452.8:p.Asn90His | |
| ENST00000311208.12:c.268A>C | ENSP00000308452.8:p.Asn90His | |
| ENST00000463128.5:c.-312-36A>C | ENSP00000468672.1:n.-312-36A>C | |
| ENST00000491673.1:n.334A>C | ||
| ENST00000493253.5:n.55A>C | ||
| ENST00000540235.5:c.63A>C | ENSP00000441751.2:p.Arg21Ser | |
| ENST00000577817.3:c.223A>C | ENSP00000467418.1:p.Asn75His | |
| NM_000422.2:c.268A>C | NP_000413.1:p.Asn90His | |
| NM_000422.3:c.268A>C MANE Select | NP_000413.1:p.Asn90His |