Linked Data
dbSNP Id:
rs2100290
gnomAD v2:
2-79632347-A-G
gnomAD v3:
2-79405221-A-G
gnomAD v4:
2-79405221-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.79405221A>G , CM000664.2:g.79405221A>G | GRCh38 |
| NC_000002.11:g.79632347A>G , CM000664.1:g.79632347A>G | GRCh37 |
| NC_000002.10:g.79485855A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000466387.5:c.-135+31208A>G | ENSP00000418191.1:n.-135+31208A>G | |
| NM_001399737.1:c.-135+31208A>G | NP_001386666.1:n.-135+31208A>G |