Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794527G>T , CM000671.2:g.77794527G>T | GRCh38 |
| NC_000009.11:g.80409443G>T , CM000671.1:g.80409443G>T | GRCh37 |
| NC_000009.10:g.79599263G>T | NCBI36 |
| NG_027904.2:g.241777C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.671C>A MANE Select | ENSP00000286548.4:p.Thr224Asn | |
| ENST00000286548.8:c.671C>A | ENSP00000286548.4:p.Thr224Asn | |
| NM_002072.4:c.671C>A | NP_002063.2:p.Thr224Asn | |
| XM_017014628.2:c.497C>A | XP_016870117.1:p.Thr166Asn | |
| NM_002072.5:c.671C>A MANE Select | NP_002063.2:p.Thr224Asn |