Linked Data
gnomAD v4:
20-2417468-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2417468C>A , CM000682.2:g.2417468C>A | GRCh38 |
| NC_000020.10:g.2398114C>A , CM000682.1:g.2398114C>A | GRCh37 |
| NC_000020.9:g.2346114C>A | NCBI36 |
| NG_031917.1:g.41561C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000202625.7:c.1573C>A MANE Select | ENSP00000202625.2:p.Gln525Lys | |
| ENST00000202625.6:c.1573C>A | ENSP00000202625.2:p.Gln525Lys | |
| ENST00000381423.1:c.1573C>A | ENSP00000370831.1:p.Gln525Lys | |
| NM_001254734.1:c.1573C>A | NP_001241663.1:p.Gln525Lys | |
| NM_198994.2:c.1573C>A | NP_945345.2:p.Gln525Lys | |
| NM_001254734.2:c.1573C>A | NP_001241663.1:p.Gln525Lys | |
| NM_198994.3:c.1573C>A MANE Select | NP_945345.2:p.Gln525Lys |