Linked Data
ClinVar Variation Id:
429735
dbSNP Id:
rs1131691556
gnomAD v2:
7-99703156-C-G
gnomAD v3:
7-100105533-C-G
gnomAD v4:
7-100105533-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100105533C>G , CM000669.2:g.100105533C>G | GRCh38 |
| NC_000007.13:g.99703156C>G , CM000669.1:g.99703156C>G | GRCh37 |
| NC_000007.12:g.99541092C>G | NCBI36 |
| NG_016312.1:g.9027C>G | |
| NG_029454.1:g.19326G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.923C>G | ENSP00000393723.2:p.Ser308Ter | |
| ENST00000495154.2:n.1182C>G | ||
| ENST00000713591.1:c.923C>G | ENSP00000518888.1:p.Ser308Ter | |
| ENST00000359593.9:c.923C>G MANE Select | ENSP00000352603.4:p.Ser308Ter | |
| ENST00000359593.8:c.923C>G | ENSP00000352603.4:p.Ser308Ter | |
| ENST00000416938.5:c.812C>G | ||
| ENST00000421755.5:c.923C>G | ENSP00000412185.1:p.Ser308Ter | |
| ENST00000422582.5:c.539C>G | ENSP00000406676.1:p.Ser180Ter | |
| ENST00000429084.5:c.944C>G | ENSP00000403663.1:p.Ser315Ter | |
| ENST00000438383.5:c.719C>G | ENSP00000401613.1:p.Ser240Ter | |
| ENST00000439416.5:c.791C>G | ENSP00000414286.1:p.Ser264Ter | |
| ENST00000445208.5:c.*532C>G | ENSP00000400598.1:n.*532C>G | |
| ENST00000445295.1:c.100C>G | ||
| ENST00000446007.5:c.*145C>G | ENSP00000396928.1:n.*145C>G | |
| ENST00000450807.5:c.179C>G | ENSP00000391585.1:p.Ser60Ter | |
| ENST00000463195.5:n.930C>G | ||
| NM_004722.3:c.923C>G | NP_004713.2:p.Ser308Ter | |
| XM_005250689.3:c.944C>G | XP_005250746.1:p.Ser315Ter | |
| XM_005250690.3:c.719C>G | XP_005250747.1:p.Ser240Ter | |
| XM_006716175.2:c.944C>G | XP_006716238.1:p.Ser315Ter | |
| XM_011516685.1:c.944C>G | XP_011514987.1:p.Ser315Ter | |
| XM_011516686.1:c.539C>G | XP_011514988.1:p.Ser180Ter | |
| XM_011516687.1:c.248C>G | XP_011514989.1:p.Ser83Ter | |
| NM_001363671.1:c.944C>G | NP_001350600.1:p.Ser315Ter | |
| XM_005250689.4:c.944C>G | XP_005250746.1:p.Ser315Ter | |
| XM_005250690.4:c.719C>G | XP_005250747.1:p.Ser240Ter | |
| XM_006716175.4:c.944C>G | XP_006716238.1:p.Ser315Ter | |
| XM_017012790.2:c.539C>G | XP_016868279.1:p.Ser180Ter | |
| XM_017012791.2:c.248C>G | XP_016868280.1:p.Ser83Ter | |
| XM_024446995.1:c.923C>G | XP_024302763.1:p.Ser308Ter | |
| XM_024446996.1:c.248C>G | XP_024302764.1:p.Ser83Ter | |
| NM_004722.4:c.923C>G MANE Select | NP_004713.2:p.Ser308Ter | |
| NM_001363671.2:c.944C>G | NP_001350600.1:p.Ser315Ter |