Linked Data
dbSNP Id:
rs774716760
ExAC:
12:4481905 A / G
gnomAD v2:
12-4481905-A-G
gnomAD v4:
12-4372739-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4372739A>G , CM000674.2:g.4372739A>G | GRCh38 |
| NC_000012.11:g.4481905A>G , CM000674.1:g.4481905A>G | GRCh37 |
| NC_000012.10:g.4352166A>G | NCBI36 |
| NG_007087.1:g.11990T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237837.2:c.212-42T>C MANE Select | ENSP00000237837.1:n.212-42T>C | |
| ENST00000648100.1:c.*1967+6457A>G | ENSP00000497536.1:n.*1967+6457A>G | |
| ENST00000648269.1:n.1670T>C | ||
| ENST00000674624.1:c.*1204+6457A>G | ENSP00000501898.1:n.*1204+6457A>G | |
| ENST00000237837.1:c.212-42T>C | ENSP00000237837.1:n.212-42T>C | |
| NM_020638.2:c.212-42T>C | NP_065689.1:n.212-42T>C | |
| NM_020638.3:c.212-42T>C MANE Select | NP_065689.1:n.212-42T>C |