Linked Data
ClinVar Variation Id:
1480401
dbSNP Id:
rs893483748
gnomAD v2:
20-39317034-C-G
gnomAD v3:
20-40688394-C-G
gnomAD v4:
20-40688394-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40688394C>G , CM000682.2:g.40688394C>G | GRCh38 |
| NC_000020.10:g.39317034C>G , CM000682.1:g.39317034C>G | GRCh37 |
| NC_000020.9:g.38750448C>G | NCBI36 |
| NG_023378.1:g.5843G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373313.3:c.457G>C MANE Select | ENSP00000362410.2:p.Asp153His | |
| ENST00000373313.2:c.457G>C | ENSP00000362410.2:p.Asp153His | |
| NM_005461.4:c.457G>C | NP_005452.2:p.Asp153His | |
| NM_005461.5:c.457G>C MANE Select | NP_005452.2:p.Asp153His |