Linked Data
dbSNP Id:
rs2069442
gnomAD v2:
7-150755205-G-C
gnomAD v3:
7-151058118-G-C
gnomAD v4:
7-151058118-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151058118G>C , CM000669.2:g.151058118G>C | GRCh38 |
| NC_000007.13:g.150755205G>C , CM000669.1:g.150755205G>C | GRCh37 |
| NC_000007.12:g.150386138G>C | NCBI36 |
| NG_042167.1:g.4848C>G | |
| NG_051947.1:g.4919G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000483786.5:c.-64+837G>C (SLC4A2) | ENSP00000417808.1:n.-64+837G>C | |
| ENST00000485972.5:c.-270C>G (CDK5) | ENSP00000419782.1:n.-270C>G |