Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57456206T>G , CM000681.2:g.57456206T>G | GRCh38 |
| NC_000019.9:g.57967574T>G , CM000681.1:g.57967574T>G | GRCh37 |
| NC_000019.8:g.62659386T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020633.4:c.281A>C MANE Select | NP_065684.1:p.Asn94Thr |
| ENST00000321039.5:c.281A>C MANE Select | ENSP00000322339.3:p.Asn94Thr |
| NM_020633.3:c.281A>C | NP_065684.1:p.Asn94Thr |
| ENST00000321039.4:c.281A>C | ENSP00000322339.3:p.Asn94Thr |
| ENST00000415705.3:n.300-24A>C | |
| ENST00000596831.1:c.200-24A>C | ENSP00000470969.1:n.200-24A>C |
| ENST00000601945.1:n.34A>C |