Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77570417C>A , CM000676.2:g.77570417C>A | GRCh38 |
| NC_000014.8:g.78036760C>A , CM000676.1:g.78036760C>A | GRCh37 |
| NC_000014.7:g.77106513C>A | NCBI36 |
| NG_028282.1:g.51351G>T , LRG_371:g.51351G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686959.1:n.1454G>T | ||
| ENST00000687688.1:n.486G>T | ||
| ENST00000691887.1:n.594G>T | ||
| ENST00000692906.1:n.455G>T | ||
| ENST00000216484.7:c.723G>T MANE Select | ENSP00000216484.2:p.Thr241= | |
| ENST00000216484.6:c.723G>T | ENSP00000216484.2:p.Thr241= | |
| ENST00000554901.1:c.532G>T | ||
| NM_004863.3:c.723G>T , LRG_371t1:c.723G>T | NP_004854.1:p.Thr241= | |
| XM_011537384.1:c.723G>T | XP_011535686.1:p.Thr241= | |
| XM_011537384.2:c.723G>T | XP_011535686.1:p.Thr241= | |
| NM_004863.4:c.723G>T MANE Select | NP_004854.1:p.Thr241= |