dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43768035C>G , CM000679.2:g.43768035C>G | GRCh38 |
| NC_000017.10:g.41845403C>G , CM000679.1:g.41845403C>G | GRCh37 |
| NC_000017.9:g.39200929C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226004.8:c.*1574G>C MANE Select | ENSP00000226004.2:n.*1574G>C | |
| ENST00000226004.7:c.*1574G>C | ENSP00000226004.2:n.*1574G>C | |
| ENST00000590753.1:c.366-1251G>C | ||
| ENST00000590935.1:c.2143G>C | ||
| NM_004090.3:c.*1574G>C | NP_004081.1:n.*1574G>C | |
| NM_004090.4:c.*1574G>C MANE Select | NP_004081.1:n.*1574G>C |