dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116776891C>G , CM000673.2:g.116776891C>G | GRCh38 |
| NC_000011.9:g.116647607C>G , CM000673.1:g.116647607C>G | GRCh37 |
| NC_000011.8:g.116152817C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.*2034G>C MANE Select | ENSP00000227322.3:n.*2034G>C | |
| ENST00000227322.7:c.*2034G>C | ENSP00000227322.3:n.*2034G>C | |
| NM_003904.5:c.*2034G>C MANE Select | NP_003895.1:n.*2034G>C | |
| NM_001317086.2:c.*2034G>C | NP_001304015.1:n.*2034G>C |