Linked Data
dbSNP Id:
rs994550803
gnomAD v2:
6-31327020-A-G
gnomAD v3:
6-31359243-A-G
gnomAD v4:
6-31359243-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31359243A>G , CM000668.2:g.31359243A>G | GRCh38 |
| NC_000006.11:g.31327020A>G , CM000668.1:g.31327020A>G | GRCh37 |
| NC_000006.10:g.31434999A>G | NCBI36 |
| NG_023187.1:g.2970T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1271-1562T>C | ||
| ENST00000481849.6:n.1271-1562T>C | ||
| ENST00000497377.6:n.1271-1562T>C | ||
| ENST00000696559.1:c.-203-1562T>C | ENSP00000512717.1:n.-203-1562T>C | |
| ENST00000696560.1:c.-203-1562T>C | ENSP00000512718.1:n.-203-1562T>C | |
| ENST00000696561.1:c.-203-1562T>C | ENSP00000512719.1:n.-203-1562T>C | |
| ENST00000696562.1:c.-135-1950T>C | ENSP00000512720.1:n.-135-1950T>C |