Linked Data
dbSNP Id:
rs1923534
gnomAD v2:
10-81710485-A-G
gnomAD v3:
10-79950729-A-G
gnomAD v4:
10-79950729-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79950729A>G , CM000672.2:g.79950729A>G | GRCh38 |
| NC_000010.10:g.81710485A>G , CM000672.1:g.81710485A>G | GRCh37 |
| NC_000010.9:g.81700465A>G | NCBI36 |
| NG_042218.1:g.3377T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000444384.3:c.37-4067T>C | ENSP00000394325.1:n.37-4067T>C | |
| XM_011540087.1:c.-3-4067T>C | XP_011538389.1:n.-3-4067T>C |