Linked Data
ClinVar Variation Id:
448668
dbSNP Id:
rs748042241
ExAC:
20:2398068 C / T
gnomAD v2:
20-2398068-C-T
gnomAD v3:
20-2417422-C-T
gnomAD v4:
20-2417422-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2417422C>T , CM000682.2:g.2417422C>T | GRCh38 |
| NC_000020.10:g.2398068C>T , CM000682.1:g.2398068C>T | GRCh37 |
| NC_000020.9:g.2346068C>T | NCBI36 |
| NG_031917.1:g.41515C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000202625.7:c.1527C>T MANE Select | ENSP00000202625.2:p.His509= | |
| ENST00000202625.6:c.1527C>T | ENSP00000202625.2:p.His509= | |
| ENST00000381423.1:c.1527C>T | ENSP00000370831.1:p.His509= | |
| NM_001254734.1:c.1527C>T | NP_001241663.1:p.His509= | |
| NM_198994.2:c.1527C>T | NP_945345.2:p.His509= | |
| NM_001254734.2:c.1527C>T | NP_001241663.1:p.His509= | |
| NM_198994.3:c.1527C>T MANE Select | NP_945345.2:p.His509= |