Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14130859G>T , CM000665.2:g.14130859G>T | GRCh38 |
| NC_000003.11:g.14172359G>T , CM000665.1:g.14172359G>T | GRCh37 |
| NC_000003.10:g.14147360G>T | NCBI36 |
| NG_008975.1:g.10920G>T , LRG_435:g.10920G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024334.3:c.200G>T MANE Select | NP_077310.1:p.Gly67Val |
| ENST00000306077.5:c.200G>T MANE Select | ENSP00000303992.5:p.Gly67Val |
| NM_024334.2:c.200G>T , LRG_435t1:c.200G>T | NP_077310.1:p.Gly67Val |
| ENST00000306077.4:c.200G>T | ENSP00000303992.4:p.Gly67Val |
| ENST00000432444.1:c.*230G>T | ENSP00000395617.1:n.*230G>T |
| ENST00000432444.2:c.*230G>T | ENSP00000395617.1:n.*230G>T |
| XM_011534109.1:c.95G>T | XP_011532411.1:p.Gly32Val |
| XM_017007176.2:c.95G>T | XP_016862665.1:p.Gly32Val |