ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50360136G>T , CM000679.2:g.50360136G>T | GRCh38 |
| NC_000017.10:g.48437497G>T , CM000679.1:g.48437497G>T | GRCh37 |
| NC_000017.9:g.45792496G>T | NCBI36 |
| NG_012175.1:g.19105G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000017003.7:c.2443G>T MANE Select | ENSP00000017003.2:p.Glu815Ter | |
| ENST00000017003.6:c.2443G>T | ENSP00000017003.2:p.Glu815Ter | |
| ENST00000376550.7:c.*327G>T | ENSP00000365733.3:n.*327G>T | |
| ENST00000507602.5:c.1942-2843G>T | ENSP00000426501.1:n.1942-2843G>T | |
| ENST00000571021.1:n.1159G>T | ||
| NM_022167.3:c.2443G>T | NP_071450.2:p.Glu815Ter | |
| NR_110010.1:n.2356G>T | ||
| XM_005257572.3:c.2347G>T | XP_005257629.1:p.Glu783Ter | |
| XM_011525114.1:c.1852G>T | XP_011523416.1:p.Glu618Ter | |
| XM_005257572.4:c.2347G>T | XP_005257629.1:p.Glu783Ter | |
| NM_022167.4:c.2443G>T MANE Select | NP_071450.2:p.Glu815Ter | |
| NR_110010.2:n.2262G>T |