Linked Data
dbSNP Id:
rs2749812
gnomAD v2:
20-23062927-A-G
gnomAD v3:
20-23082290-A-G
gnomAD v4:
20-23082290-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23082290A>G , CM000682.2:g.23082290A>G | GRCh38 |
| NC_000020.10:g.23062927A>G , CM000682.1:g.23062927A>G | GRCh37 |
| NC_000020.9:g.23010927A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246006.5:c.*1660T>C MANE Select | ENSP00000246006.4:n.*1660T>C | |
| ENST00000246006.4:c.*1660T>C | ENSP00000246006.4:n.*1660T>C | |
| NM_012072.3:c.*1660T>C | NP_036204.2:n.*1660T>C | |
| XR_001754208.2:n.2965+1292T>C | ||
| NM_012072.4:c.*1660T>C MANE Select | NP_036204.2:n.*1660T>C |