Linked Data
dbSNP Id:
rs572336775
gnomAD v2:
5-131954191-C-T
gnomAD v3:
5-132618499-C-T
gnomAD v4:
5-132618499-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132618499C>T , CM000667.2:g.132618499C>T | GRCh38 |
| NC_000005.9:g.131954191C>T , CM000667.1:g.131954191C>T | GRCh37 |
| NC_000005.8:g.131982090C>T | NCBI36 |
| NG_021151.1:g.66576C>T | |
| NG_021151.2:g.66523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3389+205C>T MANE Select | ENSP00000368100.4:n.3389+205C>T | |
| ENST00000638452.2:c.3092+205C>T | ENSP00000492349.2:n.3092+205C>T | |
| ENST00000638504.1:n.2997+205C>T | ||
| ENST00000638568.2:c.3092+205C>T | ENSP00000491158.2:n.3092+205C>T | |
| ENST00000639899.1:n.3908+205C>T | ||
| ENST00000640655.2:c.3092+205C>T | ENSP00000491596.2:n.3092+205C>T | |
| ENST00000651249.1:c.225+205C>T | ||
| ENST00000378823.7:c.3389+205C>T | ENSP00000368100.4:n.3389+205C>T | |
| ENST00000455677.1:c.24+205C>T | ||
| ENST00000533482.5:c.*3015+205C>T | ENSP00000431225.1:n.*3015+205C>T | |
| NM_005732.3:c.3389+205C>T | NP_005723.2:n.3389+205C>T | |
| NM_005732.4:c.3389+205C>T MANE Select | NP_005723.2:n.3389+205C>T |