dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79799898G>C , CM000667.2:g.79799898G>C | GRCh38 |
| NC_000005.9:g.79095721G>C , CM000667.1:g.79095721G>C | GRCh37 |
| NC_000005.8:g.79131477G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446378.3:c.*282G>C MANE Select | ENSP00000394770.2:n.*282G>C | |
| ENST00000446378.2:c.*282G>C | ENSP00000394770.2:n.*282G>C | |
| ENST00000506603.5:n.4220G>C | ||
| NM_153610.4:c.*282G>C | NP_705838.3:n.*282G>C | |
| XR_948242.1:n.12541G>C | ||
| XM_017009212.1:c.*282G>C | XP_016864701.1:n.*282G>C | |
| XR_948242.2:n.12670G>C | ||
| NM_153610.5:c.*282G>C MANE Select | NP_705838.3:n.*282G>C |