Linked Data
ClinVar Variation Id:
943517
ClinVar RCV Id:
RCV001213718
dbSNP Id:
rs1560354033
gnomAD v4:
3-189995409-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189995409G>C , CM000665.2:g.189995409G>C | GRCh38 |
| NC_000003.11:g.189713198G>C , CM000665.1:g.189713198G>C | GRCh37 |
| NC_000003.10:g.191195892G>C | NCBI36 |
| NG_031929.1:g.132029C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319332.10:c.514C>G MANE Select | ENSP00000316881.5:p.His172Asp | |
| ENST00000319332.9:c.514C>G | ENSP00000316881.5:p.His172Asp | |
| ENST00000426003.1:c.-30C>G | ENSP00000394326.1:n.-30C>G | |
| ENST00000427335.6:c.-30C>G | ENSP00000408947.2:n.-30C>G | |
| ENST00000444866.5:c.-30C>G | ENSP00000391374.1:n.-30C>G | |
| NM_001134418.1:c.-30C>G | NP_001127890.1:n.-30C>G | |
| NM_018192.3:c.514C>G | NP_060662.2:p.His172Asp | |
| XM_011512955.1:c.-30C>G | XP_011511257.1:n.-30C>G | |
| NM_018192.4:c.514C>G MANE Select | NP_060662.2:p.His172Asp | |
| NM_001134418.2:c.-30C>G | NP_001127890.1:n.-30C>G |