Linked Data
gnomAD v4:
17-74922944-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74922944T>C , CM000679.2:g.74922944T>C | GRCh38 |
| NC_000017.10:g.72919039T>C , CM000679.1:g.72919039T>C | GRCh37 |
| NC_000017.9:g.70430634T>C | NCBI36 |
| NG_007882.1:g.5313A>G | |
| NG_033062.1:g.3670T>C | |
| NG_007882.2:g.5320A>G | |
| NG_033062.2:g.3670T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.130A>G MANE Select | ENSP00000480279.1:p.Asn44Asp | |
| ENST00000579243.1:c.130A>G | ENSP00000462568.1:p.Asn44Asp | |
| ENST00000614341.4:c.130A>G | ENSP00000480279.1:p.Asn44Asp | |
| NM_001282489.2:c.-127A>G | NP_001269418.1:n.-127A>G | |
| NM_173477.4:c.130A>G | NP_775748.2:p.Asn44Asp | |
| NM_173477.5:c.130A>G MANE Select | NP_775748.2:p.Asn44Asp | |
| NM_001282489.3:c.-127A>G | NP_001269418.1:n.-127A>G |