Linked Data
dbSNP Id:
rs1377399923
gnomAD v2:
5-88354724-C-G
gnomAD v3:
5-89058907-C-G
gnomAD v4:
5-89058907-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.89058907C>G , CM000667.2:g.89058907C>G | GRCh38 |
| NC_000005.9:g.88354724C>G , CM000667.1:g.88354724C>G | GRCh37 |
| NC_000005.8:g.88390480C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_948549.1:n.269-36052C>G | ||
| NR_136217.1:n.311-36052C>G | ||
| NR_136218.1:n.401-36052C>G | ||
| NR_136219.1:n.294-36052C>G | ||
| NR_136220.1:n.327-36052C>G | ||
| NR_136221.1:n.220-36052C>G | ||
| NR_136222.1:n.311-36052C>G |