dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78807196G>C , CM000677.2:g.78807196G>C | GRCh38 |
| NC_000015.9:g.79099538G>C , CM000677.1:g.79099538G>C | GRCh37 |
| NC_000015.8:g.76886593G>C | NCBI36 |
| NG_011492.1:g.9236C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388820.5:c.100+3925C>G MANE Select | ENSP00000373472.4:n.100+3925C>G | |
| ENST00000388820.4:c.100+3925C>G | ENSP00000373472.4:n.100+3925C>G | |
| ENST00000566303.5:n.163+3925C>G | ||
| ENST00000568712.1:n.112+3925C>G | ||
| NM_014272.3:c.100+3925C>G | NP_055087.2:n.100+3925C>G | |
| XM_005254137.2:c.100+3925C>G | XP_005254194.1:n.100+3925C>G | |
| NM_014272.4:c.100+3925C>G | NP_055087.2:n.100+3925C>G | |
| XM_005254137.4:c.100+3925C>G | XP_005254194.1:n.100+3925C>G | |
| NM_014272.5:c.100+3925C>G MANE Select | NP_055087.2:n.100+3925C>G |