Linked Data
ClinVar Variation Id:
536536
dbSNP Id:
rs2273061
gnomAD v2:
20-10639543-G-A
gnomAD v3:
20-10658895-G-A
gnomAD v4:
20-10658895-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658895G>A , CM000682.2:g.10658895G>A | GRCh38 |
| NC_000020.10:g.10639543G>A , CM000682.1:g.10639543G>A | GRCh37 |
| NC_000020.9:g.10587543G>A | NCBI36 |
| NG_007496.1:g.20152C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.440-173C>T MANE Select | ENSP00000254958.4:n.440-173C>T | |
| ENST00000254958.9:c.440-173C>T | ENSP00000254958.4:n.440-173C>T | |
| ENST00000423891.6:n.306-173C>T | ||
| NM_000214.2:c.440-173C>T | NP_000205.1:n.440-173C>T | |
| NM_000214.3:c.440-173C>T MANE Select | NP_000205.1:n.440-173C>T |