Linked Data
dbSNP Id:
rs13210989
gnomAD v2:
6-16650355-T-C
gnomAD v3:
6-16650124-T-C
gnomAD v4:
6-16650124-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16650124T>C , CM000668.2:g.16650124T>C | GRCh38 |
| NC_000006.11:g.16650355T>C , CM000668.1:g.16650355T>C | GRCh37 |
| NC_000006.10:g.16758334T>C | NCBI36 |
| NG_011571.1:g.116367A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436367.6:c.-489+7652A>G MANE Select | ENSP00000416360.1:n.-489+7652A>G | |
| ENST00000646259.1:n.587+1862A>G | ||
| ENST00000675689.1:n.276+7652A>G | ||
| ENST00000244769.8:c.-489+7652A>G | ENSP00000244769.3:n.-489+7652A>G | |
| ENST00000436367.5:c.-489+7652A>G | ENSP00000416360.1:n.-489+7652A>G | |
| ENST00000473388.6:n.404+7652A>G | ||
| ENST00000483591.6:n.243+7652A>G | ||
| ENST00000495178.1:n.202+7652A>G | ||
| NM_000332.3:c.-489+7652A>G | NP_000323.2:n.-489+7652A>G | |
| NM_001128164.1:c.-489+7652A>G | NP_001121636.1:n.-489+7652A>G | |
| NM_001357857.1:c.-518+7652A>G | NP_001344786.1:n.-518+7652A>G | |
| NM_001357857.2:c.-518+7652A>G | NP_001344786.1:n.-518+7652A>G | |
| NM_001128164.2:c.-489+7652A>G MANE Select | NP_001121636.1:n.-489+7652A>G | |
| NM_000332.4:c.-489+7652A>G | NP_000323.2:n.-489+7652A>G |