Linked Data
dbSNP Id:
rs1262849005
gnomAD v2:
12-66358422-T-G
gnomAD v3:
12-65964642-T-G
gnomAD v4:
12-65964642-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65964642T>G , CM000674.2:g.65964642T>G | GRCh38 |
| NC_000012.11:g.66358422T>G , CM000674.1:g.66358422T>G | GRCh37 |
| NC_000012.10:g.64644689T>G | NCBI36 |
| NG_016296.1:g.145183T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403681.7:c.*1350T>G MANE Select | ENSP00000384026.2:n.*1350T>G | |
| ENST00000403681.6:c.*1350T>G | ENSP00000384026.2:n.*1350T>G | |
| NM_003483.4:c.*1350T>G | NP_003474.1:n.*1350T>G | |
| NM_003483.6:c.*1350T>G MANE Select | NP_003474.1:n.*1350T>G |