Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624496A>T , CM000679.2:g.41624496A>T | GRCh38 |
| NC_000017.10:g.39780748A>T , CM000679.1:g.39780748A>T | GRCh37 |
| NC_000017.9:g.37034274A>T | NCBI36 |
| NG_008625.1:g.5135T>A | |
| NG_009090.2:g.167217T>A , LRG_401:g.167217T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.14T>A MANE Select | ENSP00000308452.8:p.Ile5Asn | |
| ENST00000311208.12:c.14T>A | ENSP00000308452.8:p.Ile5Asn | |
| ENST00000463128.5:c.-313+247T>A | ENSP00000468672.1:n.-313+247T>A | |
| ENST00000491673.1:n.80T>A | ||
| ENST00000540235.5:c.-192T>A | ENSP00000441751.2:n.-192T>A | |
| NM_000422.2:c.14T>A | NP_000413.1:p.Ile5Asn | |
| NM_000422.3:c.14T>A MANE Select | NP_000413.1:p.Ile5Asn |