Linked Data
dbSNP Id:
rs371151626
gnomAD v2:
5-145038806-G-C
gnomAD v3:
5-145659243-G-C
gnomAD v4:
5-145659243-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.145659243G>C , CM000667.2:g.145659243G>C | GRCh38 |
| NC_000005.9:g.145038806G>C , CM000667.1:g.145038806G>C | GRCh37 |
| NC_000005.8:g.145018999G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510259.5:n.70+105688C>G | ||
| XR_944308.1:n.662+105688C>G | ||
| XM_017009130.1:c.*6113C>G | XP_016864619.1:n.*6113C>G | |
| XM_017009133.1:c.*6145C>G | XP_016864622.1:n.*6145C>G | |
| XR_001742025.1:n.913+44732C>G |