Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26728133C>T , CM000664.2:g.26728133C>T | GRCh38 |
| NC_000002.11:g.26951001C>T , CM000664.1:g.26951001C>T | GRCh37 |
| NC_000002.10:g.26804505C>T | NCBI36 |
| NG_033884.1:g.40421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302909.4:c.750C>T MANE Select | ENSP00000306275.3:p.Asn250= | |
| ENST00000302909.3:c.750C>T | ENSP00000306275.3:p.Asn250= | |
| ENST00000620977.1:c.381C>T | ENSP00000483136.1:p.Asn127= | |
| NM_002246.2:c.750C>T | NP_002237.1:p.Asn250= | |
| XM_005264293.1:c.420C>T | XP_005264350.1:p.Asn140= | |
| XM_005264293.2:c.420C>T | XP_005264350.1:p.Asn140= | |
| NM_002246.3:c.750C>T MANE Select | NP_002237.1:p.Asn250= |