Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34372337G>A , CM000671.2:g.34372337G>A | GRCh38 |
| NC_000009.11:g.34372335G>A , CM000671.1:g.34372335G>A | GRCh37 |
| NC_000009.10:g.34362335G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020702.5:c.607C>T MANE Select | NP_065753.2:p.Gln203Ter |
| ENST00000297625.8:c.607C>T MANE Select | ENSP00000297625.8:p.Gln203Ter |
| NM_020702.4:c.607C>T | NP_065753.2:p.Gln203Ter |
| ENST00000297625.7:c.607C>T | ENSP00000297625.8:p.Gln203Ter |
| ENST00000379142.3:c.217-6C>T | ENSP00000368437.2:n.217-6C>T |
| XM_011517966.1:c.607C>T | XP_011516268.1:p.Gln203Ter |
| XM_011517966.3:c.607C>T | XP_011516268.1:p.Gln203Ter |
| XM_017014930.2:c.607C>T | XP_016870419.1:p.Gln203Ter |