dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49594946G>C , CM000680.2:g.49594946G>C | GRCh38 |
| NC_000018.9:g.47121316G>C , CM000680.1:g.47121316G>C | GRCh37 |
| NC_000018.8:g.45375314G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.*4424G>C MANE Select | ENSP00000261292.4:n.*4424G>C | |
| ENST00000261292.8:c.*4424G>C | ENSP00000261292.4:n.*4424G>C | |
| NM_006033.4:c.*4424G>C MANE Select | NP_006024.1:n.*4424G>C | |
| NM_001308006.2:c.*4424G>C | NP_001294935.1:n.*4424G>C |