dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80151969C>G , CM000672.2:g.80151969C>G | GRCh38 |
| NC_000010.10:g.81911725C>G , CM000672.1:g.81911725C>G | GRCh37 |
| NC_000010.9:g.81901705C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422982.8:c.*3884G>C MANE Select | ENSP00000404412.2:n.*3884G>C | |
| ENST00000372231.7:c.*3884G>C | ENSP00000361305.3:n.*3884G>C | |
| ENST00000438331.5:c.*3884G>C | ENSP00000398610.1:n.*3884G>C | |
| NM_145868.2:c.*3884G>C MANE Select | NP_665875.1:n.*3884G>C | |
| NM_001157.3:c.*3884G>C | NP_001148.1:n.*3884G>C | |
| NM_001278407.2:c.*3884G>C | NP_001265336.1:n.*3884G>C | |
| NM_001278409.2:c.*3884G>C | NP_001265338.1:n.*3884G>C | |
| NM_145869.2:c.*3884G>C | NP_665876.1:n.*3884G>C | |
| NM_001278408.2:c.*3884G>C | NP_001265337.1:n.*3884G>C |