Linked Data
ClinVar Variation Id:
2887943
ClinVar RCV Id:
RCV003618787
dbSNP Id:
rs776854183
gnomAD v2:
7-99700600-C-T
gnomAD v4:
7-100102977-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100102977C>T , CM000669.2:g.100102977C>T | GRCh38 |
| NC_000007.13:g.99700600C>T , CM000669.1:g.99700600C>T | GRCh37 |
| NC_000007.12:g.99538536C>T | NCBI36 |
| NG_016312.1:g.6471C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.351+17C>T | ENSP00000393723.2:n.351+17C>T | |
| ENST00000495154.2:n.512+17C>T | ||
| ENST00000713591.1:c.351+17C>T | ENSP00000518888.1:n.351+17C>T | |
| ENST00000359593.9:c.351+17C>T MANE Select | ENSP00000352603.4:n.351+17C>T | |
| ENST00000359593.8:c.351+17C>T | ENSP00000352603.4:n.351+17C>T | |
| ENST00000394061.7:c.*304+17C>T | ENSP00000377625.3:n.*304+17C>T | |
| ENST00000416938.5:c.307+17C>T | ||
| ENST00000421755.5:c.351+17C>T | ENSP00000412185.1:n.351+17C>T | |
| ENST00000422582.5:c.-34+17C>T | ENSP00000406676.1:n.-34+17C>T | |
| ENST00000429084.5:c.372+17C>T | ENSP00000403663.1:n.372+17C>T | |
| ENST00000438383.5:c.148-432C>T | ENSP00000401613.1:n.148-432C>T | |
| ENST00000439416.5:c.219+231C>T | ENSP00000414286.1:n.219+231C>T | |
| ENST00000445208.5:c.254+196C>T | ENSP00000400598.1:n.254+196C>T | |
| ENST00000446007.5:c.351+17C>T | ENSP00000396928.1:n.351+17C>T | |
| ENST00000463195.5:n.425+17C>T | ||
| ENST00000478501.5:n.855+17C>T | ||
| ENST00000495154.1:n.512+17C>T | ||
| NM_004722.3:c.351+17C>T | NP_004713.2:n.351+17C>T | |
| XM_005250689.3:c.372+17C>T | XP_005250746.1:n.372+17C>T | |
| XM_005250690.3:c.148-432C>T | XP_005250747.1:n.148-432C>T | |
| XM_006716175.2:c.372+17C>T | XP_006716238.1:n.372+17C>T | |
| XM_011516685.1:c.372+17C>T | XP_011514987.1:n.372+17C>T | |
| XM_011516686.1:c.-34+17C>T | XP_011514988.1:n.-34+17C>T | |
| XM_011516687.1:c.-258+17C>T | XP_011514989.1:n.-258+17C>T | |
| NM_001363671.1:c.372+17C>T | NP_001350600.1:n.372+17C>T | |
| XM_005250689.4:c.372+17C>T | XP_005250746.1:n.372+17C>T | |
| XM_005250690.4:c.148-432C>T | XP_005250747.1:n.148-432C>T | |
| XM_006716175.4:c.372+17C>T | XP_006716238.1:n.372+17C>T | |
| XM_017012790.2:c.-34+17C>T | XP_016868279.1:n.-34+17C>T | |
| XM_017012791.2:c.-257-432C>T | XP_016868280.1:n.-257-432C>T | |
| XM_024446995.1:c.351+17C>T | XP_024302763.1:n.351+17C>T | |
| XM_024446996.1:c.-258+17C>T | XP_024302764.1:n.-258+17C>T | |
| NM_004722.4:c.351+17C>T MANE Select | NP_004713.2:n.351+17C>T | |
| NM_001363671.2:c.372+17C>T | NP_001350600.1:n.372+17C>T |