Linked Data
dbSNP Id:
rs1049268
gnomAD v2:
6-31321686-A-C
gnomAD v3:
6-31353909-A-C
gnomAD v4:
6-31353909-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31353909A>C , CM000668.2:g.31353909A>C | GRCh38 |
| NC_000006.11:g.31321686A>C , CM000668.1:g.31321686A>C | GRCh37 |
| NC_000006.10:g.31429665A>C | NCBI36 |
| NG_023187.1:g.8304T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.3528T>G | ||
| ENST00000481849.6:n.3488T>G | ||
| ENST00000497377.6:n.3395T>G | ||
| ENST00000696558.1:c.1550T>G | ENSP00000512716.1:n.1550T>G | |
| ENST00000696559.1:c.*392T>G | ENSP00000512717.1:n.*392T>G | |
| ENST00000696560.1:c.*392T>G | ENSP00000512718.1:n.*392T>G | |
| ENST00000696561.1:c.*392T>G | ENSP00000512719.1:n.*392T>G | |
| ENST00000696562.1:c.*392T>G | ENSP00000512720.1:n.*392T>G | |
| ENST00000412585.7:c.*392T>G MANE Select | ENSP00000399168.2:n.*392T>G | |
| ENST00000412585.6:c.*392T>G | ENSP00000399168.2:n.*392T>G | |
| ENST00000481849.5:n.716T>G | ||
| ENST00000497377.5:n.880T>G | ||
| NM_005514.6:c.*392T>G | NP_005505.2:n.*392T>G | |
| XM_011514556.1:c.*392T>G | XP_011512858.1:n.*392T>G | |
| XM_011514557.1:c.*392T>G | XP_011512859.1:n.*392T>G | |
| XR_926175.1:n.1920T>G | ||
| NM_005514.7:c.*392T>G | NP_005505.2:n.*392T>G | |
| NM_005514.8:c.*392T>G MANE Select | NP_005505.2:n.*392T>G |