Linked Data
dbSNP Id:
rs1370614357
gnomAD v2:
20-2398071-C-A
gnomAD v3:
20-2417425-C-A
gnomAD v4:
20-2417425-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2417425C>A , CM000682.2:g.2417425C>A | GRCh38 |
| NC_000020.10:g.2398071C>A , CM000682.1:g.2398071C>A | GRCh37 |
| NC_000020.9:g.2346071C>A | NCBI36 |
| NG_031917.1:g.41518C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000202625.7:c.1530C>A MANE Select | ENSP00000202625.2:p.Asp510Glu | |
| ENST00000202625.6:c.1530C>A | ENSP00000202625.2:p.Asp510Glu | |
| ENST00000381423.1:c.1530C>A | ENSP00000370831.1:p.Asp510Glu | |
| NM_001254734.1:c.1530C>A | NP_001241663.1:p.Asp510Glu | |
| NM_198994.2:c.1530C>A | NP_945345.2:p.Asp510Glu | |
| NM_001254734.2:c.1530C>A | NP_001241663.1:p.Asp510Glu | |
| NM_198994.3:c.1530C>A MANE Select | NP_945345.2:p.Asp510Glu |