Linked Data
dbSNP Id:
rs1201808170
gnomAD v2:
6-31324992-G-C
gnomAD v3:
6-31357215-G-C
gnomAD v4:
6-31357215-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31357215G>C , CM000668.2:g.31357215G>C | GRCh38 |
| NC_000006.11:g.31324992G>C , CM000668.1:g.31324992G>C | GRCh37 |
| NC_000006.10:g.31432971G>C | NCBI36 |
| NG_023187.1:g.4998C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1417C>G | ||
| ENST00000481849.6:n.1417C>G | ||
| ENST00000497377.6:n.1417C>G | ||
| ENST00000696559.1:c.-57C>G | ENSP00000512717.1:n.-57C>G | |
| ENST00000696560.1:c.-57C>G | ENSP00000512718.1:n.-57C>G | |
| ENST00000696561.1:c.-57C>G | ENSP00000512719.1:n.-57C>G | |
| ENST00000696562.1:c.-57C>G | ENSP00000512720.1:n.-57C>G | |
| ENST00000603274.1:n.569G>C | ||
| NM_005514.7:c.-57C>G | NP_005505.2:n.-57C>G |