Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189034923G>T , CM000664.2:g.189034923G>T | GRCh38 |
| NC_000002.11:g.189899649G>T , CM000664.1:g.189899649G>T | GRCh37 |
| NC_000002.10:g.189607894G>T | NCBI36 |
| NG_011799.1:g.149957C>A | |
| NG_011799.2:g.149957C>A | |
| NG_011799.3:g.195379C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.4346C>A MANE Select | NP_000384.2:p.Thr1449Asn |
| ENST00000374866.9:c.4346C>A MANE Select | ENSP00000364000.3:p.Thr1449Asn |
| NM_000393.3:c.4346C>A | NP_000384.2:p.Thr1449Asn |
| NM_000393.4:c.4346C>A | NP_000384.2:p.Thr1449Asn |
| ENST00000374866.7:c.4346C>A | ENSP00000364000.3:p.Thr1449Asn |
| ENST00000618828.1:c.3185C>A | ENSP00000482184.1:p.Thr1062Asn |
| XM_011510573.1:c.4208C>A | XP_011508875.1:p.Thr1403Asn |
| XM_011510573.3:c.4208C>A | XP_011508875.1:p.Thr1403Asn |