Linked Data
dbSNP Id:
rs12198173
gnomAD v2:
6-32026808-G-A
gnomAD v3:
6-32059031-G-A
gnomAD v4:
6-32059031-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32059031G>A , CM000668.2:g.32059031G>A | GRCh38 |
| NC_000006.11:g.32026808G>A , CM000668.1:g.32026808G>A | GRCh37 |
| NC_000006.10:g.32134786G>A | NCBI36 |
| NG_008337.2:g.55344C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644971.2:c.7493-641C>T MANE Select | ENSP00000496448.1:n.7493-641C>T | |
| ENST00000647633.1:c.8234-641C>T | ENSP00000497649.1:n.8234-641C>T | |
| ENST00000375244.7:c.7493-641C>T | ENSP00000364393.3:n.7493-641C>T | |
| ENST00000611016.2:c.653-641C>T | ENSP00000483409.1:n.653-641C>T | |
| NM_019105.6:c.7493-641C>T | NP_061978.6:n.7493-641C>T | |
| NM_001365276.1:c.7493-641C>T | NP_001352205.1:n.7493-641C>T | |
| NM_019105.7:c.7493-641C>T | NP_061978.6:n.7493-641C>T | |
| NM_001365276.2:c.7493-641C>T MANE Select | NP_001352205.1:n.7493-641C>T | |
| NM_019105.8:c.7493-641C>T | NP_061978.6:n.7493-641C>T |