Linked Data
dbSNP Id:
rs12770228
gnomAD v2:
10-21783634-G-A
gnomAD v3:
10-21494705-G-A
gnomAD v4:
10-21494705-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.21494705G>A , CM000672.2:g.21494705G>A | GRCh38 |
| NC_000010.10:g.21783634G>A , CM000672.1:g.21783634G>A | GRCh37 |
| NC_000010.9:g.21823640G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377113.5:c.*895C>T | ENSP00000366317.5:n.*895C>T | |
| NM_001010911.2:c.*895C>T | NP_001010911.1:n.*895C>T | |
| NM_001010911.3:c.*895C>T | NP_001010911.1:n.*895C>T | |
| NR_160800.1:n.1752C>T |