dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72032174G>C , CM000674.2:g.72032174G>C | GRCh38 |
| NC_000012.11:g.72425954G>C , CM000674.1:g.72425954G>C | GRCh37 |
| NC_000012.10:g.70712221G>C | NCBI36 |
| NG_008279.1:g.98329G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.*479G>C MANE Select | ENSP00000329093.3:n.*479G>C | |
| ENST00000333850.3:c.*479G>C | ENSP00000329093.3:n.*479G>C | |
| ENST00000547278.1:n.78+783G>C | ||
| ENST00000547348.5:n.100+783G>C | ||
| ENST00000550403.5:n.120+783G>C | ||
| ENST00000551074.5:n.93+783G>C | ||
| NM_173353.3:c.*479G>C | NP_775489.2:n.*479G>C | |
| XM_011537899.1:c.*479G>C | XP_011536201.1:n.*479G>C | |
| NM_173353.4:c.*479G>C MANE Select | NP_775489.2:n.*479G>C |