dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.20109361G>C , CM000668.2:g.20109361G>C | GRCh38 |
| NC_000006.11:g.20109592G>C , CM000668.1:g.20109592G>C | GRCh37 |
| NC_000006.10:g.20217571G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324607.8:c.1361+237C>G MANE Select | ENSP00000324944.7:n.1361+237C>G | |
| ENST00000324607.7:c.1361+237C>G | ENSP00000324944.7:n.1361+237C>G | |
| NM_001080480.2:c.1361+237C>G | NP_001073949.1:n.1361+237C>G | |
| NR_073465.1:n.1311+237C>G | ||
| XM_006714999.1:c.1265+237C>G | XP_006715062.1:n.1265+237C>G | |
| XM_006714999.2:c.1265+237C>G | XP_006715062.1:n.1265+237C>G | |
| NM_001080480.3:c.1361+237C>G MANE Select | NP_001073949.1:n.1361+237C>G | |
| NR_073465.2:n.1316+237C>G |