Linked Data
gnomAD v4:
17-74920028-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920028C>T , CM000679.2:g.74920028C>T | GRCh38 |
| NC_000017.10:g.72916123C>T , CM000679.1:g.72916123C>T | GRCh37 |
| NC_000017.9:g.70427718C>T | NCBI36 |
| NG_007882.1:g.8229G>A | |
| NG_033062.1:g.754C>T | |
| NG_007882.2:g.8236G>A | |
| NG_033062.2:g.754C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.808G>A MANE Select | ENSP00000480279.1:p.Ala270Thr | |
| ENST00000579243.1:c.*407G>A | ENSP00000462568.1:n.*407G>A | |
| ENST00000614341.4:c.808G>A | ENSP00000480279.1:p.Ala270Thr | |
| NM_001282489.2:c.499G>A | NP_001269418.1:p.Ala167Thr | |
| NM_173477.4:c.808G>A | NP_775748.2:p.Ala270Thr | |
| XM_011524296.1:c.499G>A | XP_011522598.1:p.Ala167Thr | |
| XM_011524296.2:c.499G>A | XP_011522598.1:p.Ala167Thr | |
| NM_173477.5:c.808G>A MANE Select | NP_775748.2:p.Ala270Thr | |
| NM_001282489.3:c.499G>A | NP_001269418.1:p.Ala167Thr |