Linked Data
dbSNP Id:
rs13438712
gnomAD v2:
7-105542580-T-C
gnomAD v3:
7-105902134-T-C
gnomAD v4:
7-105902134-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.105902134T>C , CM000669.2:g.105902134T>C | GRCh38 |
| NC_000007.13:g.105542580T>C , CM000669.1:g.105542580T>C | GRCh37 |
| NC_000007.12:g.105329816T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470188.5:n.438-8883T>C | ||
| ENST00000487084.1:n.463-8093T>C | ||
| ENST00000488386.5:c.-16+24877T>C | ENSP00000419593.1:n.-16+24877T>C | |
| XM_005250224.3:c.-16+24877T>C | XP_005250281.1:n.-16+24877T>C | |
| XM_005250224.5:c.-16+24877T>C | XP_005250281.1:n.-16+24877T>C | |
| XM_017011863.2:c.-403+24877T>C | XP_016867352.1:n.-403+24877T>C | |
| XM_017011865.2:c.-16+24877T>C | XP_016867354.1:n.-16+24877T>C | |
| XM_017011866.2:c.-506+24877T>C | XP_016867355.1:n.-506+24877T>C | |
| XM_017011867.2:c.-200+24877T>C | XP_016867356.1:n.-200+24877T>C | |
| XM_024446690.1:c.-303+24877T>C | XP_024302458.1:n.-303+24877T>C |