Linked Data
dbSNP Id:
rs7098785
gnomAD v2:
10-98417930-A-G
gnomAD v3:
10-96658173-A-G
gnomAD v4:
10-96658173-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96658173A>G , CM000672.2:g.96658173A>G | GRCh38 |
| NC_000010.10:g.98417930A>G , CM000672.1:g.98417930A>G | GRCh37 |
| NC_000010.9:g.98407920A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339364.10:c.431-1239T>C MANE Select | ENSP00000339826.5:n.431-1239T>C | |
| ENST00000339364.9:c.431-1239T>C | ENSP00000339826.5:n.431-1239T>C | |
| ENST00000371110.6:c.-104-1239T>C | ENSP00000360151.2:n.-104-1239T>C | |
| ENST00000468783.1:n.77-1239T>C | ||
| NM_152309.2:c.431-1239T>C | NP_689522.2:n.431-1239T>C | |
| XM_005269498.1:c.-104-1239T>C | XP_005269555.1:n.-104-1239T>C | |
| XM_005269499.1:c.-104-1239T>C | XP_005269556.1:n.-104-1239T>C | |
| XM_011539248.1:c.431-1239T>C | XP_011537550.1:n.431-1239T>C | |
| XM_011539249.1:c.431-1239T>C | XP_011537551.1:n.431-1239T>C | |
| NM_152309.3:c.431-1239T>C MANE Select | NP_689522.2:n.431-1239T>C |