Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954333T>A , CM000670.2:g.19954333T>A | GRCh38 |
| NC_000008.10:g.19811844T>A , CM000670.1:g.19811844T>A | GRCh37 |
| NC_000008.9:g.19856124T>A | NCBI36 |
| NG_008855.1:g.20263T>A | |
| NG_008855.2:g.57617T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.755T>A MANE Select | NP_000228.1:p.Ile252Asn |
| ENST00000650287.1:c.755T>A MANE Select | ENSP00000497642.1:p.Ile252Asn |
| NM_000237.2:c.755T>A | NP_000228.1:p.Ile252Asn |
| ENST00000311322.8:c.755T>A | ENSP00000309757.6:p.Ile252Asn |