Linked Data
dbSNP Id:
rs764691271
ExAC:
5:131940732 T / G
gnomAD v2:
5-131940732-T-G
gnomAD v4:
5-132605040-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132605040T>G , CM000667.2:g.132605040T>G | GRCh38 |
| NC_000005.9:g.131940732T>G , CM000667.1:g.131940732T>G | GRCh37 |
| NC_000005.8:g.131968631T>G | NCBI36 |
| NG_021151.1:g.53117T>G | |
| NG_021151.2:g.53064T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2718+41T>G MANE Select | ENSP00000368100.4:n.2718+41T>G | |
| ENST00000638452.2:c.2421+41T>G | ENSP00000492349.2:n.2421+41T>G | |
| ENST00000638504.1:n.2326+41T>G | ||
| ENST00000638568.2:c.2421+41T>G | ENSP00000491158.2:n.2421+41T>G | |
| ENST00000639899.1:n.3237+41T>G | ||
| ENST00000640655.2:c.2421+41T>G | ENSP00000491596.2:n.2421+41T>G | |
| ENST00000651160.1:c.*862+41T>G | ENSP00000498829.1:n.*862+41T>G | |
| ENST00000651723.1:c.*2801+41T>G | ENSP00000498237.1:n.*2801+41T>G | |
| ENST00000652016.1:c.*935+41T>G | ENSP00000498267.1:n.*935+41T>G | |
| ENST00000378823.7:c.2718+41T>G | ENSP00000368100.4:n.2718+41T>G | |
| ENST00000423956.5:c.*904+41T>G | ENSP00000390971.1:n.*904+41T>G | |
| ENST00000533482.5:c.*2344+41T>G | ENSP00000431225.1:n.*2344+41T>G | |
| NM_005732.3:c.2718+41T>G | NP_005723.2:n.2718+41T>G | |
| NM_005732.4:c.2718+41T>G MANE Select | NP_005723.2:n.2718+41T>G |