gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197089953G>A , CM000663.2:g.197089953G>A | GRCh38 |
| NC_000001.10:g.197059083G>A , CM000663.1:g.197059083G>A | GRCh37 |
| NC_000001.9:g.195325706G>A | NCBI36 |
| NG_015867.1:g.61742C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.3248C>T | ||
| ENST00000367409.9:c.9961C>T MANE Select | ENSP00000356379.4:p.Gln3321Ter | |
| ENST00000680265.1:c.10183C>T | ENSP00000505384.1:p.Gln3395Ter | |
| ENST00000680710.1:c.9937C>T | ENSP00000506676.1:p.Gln3313Ter | |
| ENST00000294732.11:c.5206C>T | ENSP00000294732.7:p.Gln1736Ter | |
| ENST00000367408.5:c.2956C>T | ENSP00000356378.1:p.Gln986Ter | |
| ENST00000367409.8:c.9961C>T | ENSP00000356379.4:p.Gln3321Ter | |
| ENST00000612785.1:c.3919C>T | ENSP00000479244.1:p.Gln1307Ter | |
| NM_001206846.1:c.5206C>T | NP_001193775.1:p.Gln1736Ter | |
| NM_018136.4:c.9961C>T | NP_060606.3:p.Gln3321Ter | |
| NM_018136.5:c.9961C>T MANE Select | NP_060606.3:p.Gln3321Ter | |
| NM_001206846.2:c.5206C>T | NP_001193775.1:p.Gln1736Ter |