Linked Data
dbSNP Id:
rs1667349687
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328697T>C , CM000664.2:g.29328697T>C | GRCh38 |
| NC_000002.11:g.29551563T>C , CM000664.1:g.29551563T>C | GRCh37 |
| NC_000002.10:g.29405067T>C | NCBI36 |
| NG_009445.1:g.597870A>G , LRG_488:g.597870A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1283-216A>G MANE Select | ENSP00000373700.3:n.1283-216A>G | |
| ENST00000389048.7:c.1283-216A>G | ENSP00000373700.3:n.1283-216A>G | |
| ENST00000618119.4:c.152-216A>G | ENSP00000482733.1:n.152-216A>G | |
| NM_004304.4:c.1283-216A>G | NP_004295.2:n.1283-216A>G | |
| XR_939920.1:n.817+188T>C | ||
| XR_939921.1:n.680+6169T>C | ||
| XR_001738688.2:n.2213-216A>G | ||
| XR_939920.2:n.707+188T>C | ||
| XR_939921.2:n.576+6169T>C | ||
| NM_004304.5:c.1283-216A>G MANE Select | NP_004295.2:n.1283-216A>G |