Linked Data
dbSNP Id:
rs185937162
gnomAD v2:
6-31325268-T-G
gnomAD v3:
6-31357491-T-G
gnomAD v4:
6-31357491-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31357491T>G , CM000668.2:g.31357491T>G | GRCh38 |
| NC_000006.11:g.31325268T>G , CM000668.1:g.31325268T>G | GRCh37 |
| NC_000006.10:g.31433247T>G | NCBI36 |
| NG_023187.1:g.4722A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1338+123A>C | ||
| ENST00000481849.6:n.1338+123A>C | ||
| ENST00000497377.6:n.1338+123A>C | ||
| ENST00000696559.1:c.-136+123A>C | ENSP00000512717.1:n.-136+123A>C | |
| ENST00000696560.1:c.-136+123A>C | ENSP00000512718.1:n.-136+123A>C | |
| ENST00000696561.1:c.-136+123A>C | ENSP00000512719.1:n.-136+123A>C | |
| ENST00000696562.1:c.-135-198A>C | ENSP00000512720.1:n.-135-198A>C | |
| ENST00000603274.1:n.845T>G | ||
| XR_926692.1:n.164+123A>C |