Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033470C>A , CM000666.2:g.52033470C>A | GRCh38 |
| NC_000004.11:g.52899636C>A , CM000666.1:g.52899636C>A | GRCh37 |
| NC_000004.10:g.52594393C>A | NCBI36 |
| NG_008891.1:g.9850G>T , LRG_204:g.9850G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.204G>T MANE Select | NP_000223.1:p.Val68= |
| ENST00000381431.10:c.204G>T MANE Select | ENSP00000370839.6:p.Val68= |
| NM_000232.4:c.204G>T , LRG_204t1:c.204G>T | NP_000223.1:p.Val68= |
| ENST00000381431.9:c.204G>T | ENSP00000370839.5:p.Val68= |
| ENST00000506357.5:c.190G>T | |
| ENST00000514133.1:c.171G>T | ENSP00000425818.1:p.Val57= |
| XM_006714049.2:c.-204G>T | XP_006714112.1:n.-204G>T |
| XM_011534403.1:c.34-3607G>T | XP_011532705.1:n.34-3607G>T |
| XM_011534404.1:c.-181G>T | XP_011532706.1:n.-181G>T |