Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965596C>A , CM000681.2:g.48965596C>A | GRCh38 |
| NC_000019.9:g.49468853C>A , CM000681.1:g.49468853C>A | GRCh37 |
| NC_000019.8:g.54160665C>A | NCBI36 |
| NG_008152.1:g.5288C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.89C>A MANE Select | NP_000137.2:p.Thr30Asn |
| ENST00000331825.11:c.89C>A MANE Select | ENSP00000366525.2:p.Thr30Asn |
| NM_000146.3:c.89C>A | NP_000137.2:p.Thr30Asn |
| ENST00000331825.10:c.89C>A | ENSP00000366525.2:p.Thr30Asn |
| ENST00000622577.2:c.89C>A | ENSP00000484043.1:p.Thr30Asn |
| XM_024451447.1:c.599C>A | XP_024307215.1:p.Thr200Asn |