Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417092C>T , CM000678.2:g.23417092C>T | GRCh38 |
| NC_000016.9:g.23428413C>T , CM000678.1:g.23428413C>T | GRCh37 |
| NC_000016.8:g.23335914C>T | NCBI36 |
| NG_021287.1:g.41100G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153603.4:c.1167G>A MANE Select | NP_705831.1:p.Gln389= |
| ENST00000307149.10:c.1167G>A MANE Select | ENSP00000305442.5:p.Gln389= |
| NM_153603.3:c.1167G>A | NP_705831.1:p.Gln389= |
| ENST00000307149.9:c.1167G>A | ENSP00000305442.5:p.Gln389= |
| ENST00000567821.1:n.202G>A | |
| XM_017023870.1:c.972G>A | XP_016879359.1:p.Gln324= |
| XR_002957852.1:n.1388G>A | |
| XR_429680.1:n.1383G>A | |
| XR_429680.2:n.1388G>A |