Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029773G>A , CM000666.2:g.52029773G>A | GRCh38 |
| NC_000004.11:g.52895939G>A , CM000666.1:g.52895939G>A | GRCh37 |
| NC_000004.10:g.52590696G>A | NCBI36 |
| NG_008891.1:g.13547C>T , LRG_204:g.13547C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.334C>T MANE Select | NP_000223.1:p.Gln112Ter |
| ENST00000381431.10:c.334C>T MANE Select | ENSP00000370839.6:p.Gln112Ter |
| NM_000232.4:c.334C>T , LRG_204t1:c.334C>T | NP_000223.1:p.Gln112Ter |
| ENST00000381431.9:c.334C>T | ENSP00000370839.5:p.Gln112Ter |
| ENST00000506357.5:c.417C>T | |
| ENST00000514133.1:c.411C>T | ENSP00000425818.1:n.411C>T |
| XM_006714049.2:c.37C>T | XP_006714112.1:p.Gln13Ter |
| XM_011534403.1:c.124C>T | XP_011532705.1:p.Gln42Ter |
| XM_011534404.1:c.37C>T | XP_011532706.1:p.Gln13Ter |