Linked Data
dbSNP Id:
rs1065297
gnomAD v2:
10-44865976-A-G
gnomAD v3:
10-44370528-A-G
gnomAD v4:
10-44370528-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44370528A>G , CM000672.2:g.44370528A>G | GRCh38 |
| NC_000010.10:g.44865976A>G , CM000672.1:g.44865976A>G | GRCh37 |
| NC_000010.9:g.44185982A>G | NCBI36 |
| NG_016861.1:g.19570T>C | |
| NG_016861.2:g.19570T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374429.6:c.*2800T>C | ENSP00000363551.2:n.*2800T>C | |
| NM_000609.6:c.*2800T>C | NP_000600.1:n.*2800T>C | |
| NM_001277990.1:c.*2360T>C | NP_001264919.1:n.*2360T>C | |
| XR_001747171.1:n.331+8109T>C | ||
| XR_001747172.1:n.331+8109T>C | ||
| XR_001747173.1:n.331+8109T>C | ||
| XR_001747174.1:n.331+8109T>C | ||
| NM_000609.7:c.*2800T>C | NP_000600.1:n.*2800T>C | |
| NM_001277990.2:c.*2360T>C | NP_001264919.1:n.*2360T>C |