Linked Data
gnomAD v4:
17-44249144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44249144G>A , CM000679.2:g.44249144G>A | GRCh38 |
| NC_000017.10:g.42326512G>A , CM000679.1:g.42326512G>A | GRCh37 |
| NC_000017.9:g.39682038G>A | NCBI36 |
| NG_007498.1:g.23991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.*1314C>T MANE Select | ENSP00000262418.6:n.*1314C>T | |
| ENST00000262418.10:c.*1314C>T | ENSP00000262418.6:n.*1314C>T | |
| ENST00000399246.3:c.*1314C>T | ENSP00000382190.3:n.*1314C>T | |
| ENST00000631130.1:c.61C>T | ENSP00000486787.1:p.His21Tyr | |
| NM_000342.3:c.*1314C>T | NP_000333.1:n.*1314C>T | |
| XM_005257593.3:c.*1314C>T | XP_005257650.1:n.*1314C>T | |
| XM_011525129.1:c.*1314C>T | XP_011523431.1:n.*1314C>T | |
| NM_000342.4:c.*1314C>T MANE Select | NP_000333.1:n.*1314C>T |