Linked Data
dbSNP Id:
rs757928270
ExAC:
11:61633198 A / G
gnomAD v2:
11-61633198-A-G
gnomAD v3:
11-61865726-A-G
gnomAD v4:
11-61865726-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61865726A>G , CM000673.2:g.61865726A>G | GRCh38 |
| NC_000011.9:g.61633198A>G , CM000673.1:g.61633198A>G | GRCh37 |
| NC_000011.8:g.61389774A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278840.9:c.*37A>G MANE Select | ENSP00000278840.4:n.*37A>G | |
| ENST00000257261.10:c.*37A>G | ENSP00000257261.6:n.*37A>G | |
| ENST00000278840.8:c.*37A>G | ENSP00000278840.4:n.*37A>G | |
| ENST00000522056.5:c.*37A>G | ENSP00000429500.1:n.*37A>G | |
| ENST00000523235.5:n.3452A>G | ||
| NM_001281501.1:c.*37A>G | NP_001268430.1:n.*37A>G | |
| NM_001281502.1:c.*37A>G | NP_001268431.1:n.*37A>G | |
| NM_004265.3:c.*37A>G | NP_004256.1:n.*37A>G | |
| NM_004265.4:c.*37A>G MANE Select | NP_004256.1:n.*37A>G |