Linked Data
dbSNP Id:
rs1165496129
gnomAD v2:
2-241808113-C-A
gnomAD v3:
2-240868696-C-A
gnomAD v4:
2-240868696-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868696C>A , CM000664.2:g.240868696C>A | GRCh38 |
| NC_000002.11:g.241808113C>A , CM000664.1:g.241808113C>A | GRCh37 |
| NC_000002.10:g.241456786C>A | NCBI36 |
| NG_008005.1:g.4952C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-170C>A | ENSP00000302620.3:n.-170C>A | |
| XR_924060.1:n.405+1537G>T |