dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3204477A>C , CM000682.2:g.3204477A>C | GRCh38 |
| NC_000020.10:g.3185123A>C , CM000682.1:g.3185123A>C | GRCh37 |
| NC_000020.9:g.3133123A>C | NCBI36 |
| NG_012093.1:g.68A>C | |
| NG_012093.2:g.611A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354488.8:c.91+60T>G MANE Select | ENSP00000346483.3:n.91+60T>G | |
| ENST00000354488.7:c.91+60T>G | ENSP00000346483.3:n.91+60T>G | |
| ENST00000380201.2:c.91+60T>G | ENSP00000369548.2:n.91+60T>G | |
| NM_023935.1:c.91+60T>G | NP_076424.1:n.91+60T>G | |
| NM_023935.2:c.91+60T>G | NP_076424.1:n.91+60T>G | |
| NM_023935.3:c.91+60T>G MANE Select | NP_076424.1:n.91+60T>G |