Linked Data
ClinVar Variation Id:
471067
ClinVar RCV Id:
RCV000558989
dbSNP Id:
rs1388187930
gnomAD v2:
7-99701133-C-T
gnomAD v3:
7-100103510-C-T
gnomAD v4:
7-100103510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100103510C>T , CM000669.2:g.100103510C>T | GRCh38 |
| NC_000007.13:g.99701133C>T , CM000669.1:g.99701133C>T | GRCh37 |
| NC_000007.12:g.99539069C>T | NCBI36 |
| NG_016312.1:g.7004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.453C>T | ENSP00000393723.2:p.Ser151= | |
| ENST00000495154.2:n.712C>T | ||
| ENST00000713591.1:c.453C>T | ENSP00000518888.1:p.Ser151= | |
| ENST00000359593.9:c.453C>T MANE Select | ENSP00000352603.4:p.Ser151= | |
| ENST00000359593.8:c.453C>T | ENSP00000352603.4:p.Ser151= | |
| ENST00000394061.7:c.*406C>T | ENSP00000377625.3:n.*406C>T | |
| ENST00000416938.5:c.409C>T | ||
| ENST00000421755.5:c.453C>T | ENSP00000412185.1:p.Ser151= | |
| ENST00000422582.5:c.69C>T | ENSP00000406676.1:p.Ser23= | |
| ENST00000429084.5:c.474C>T | ENSP00000403663.1:p.Ser158= | |
| ENST00000438383.5:c.249C>T | ENSP00000401613.1:p.Ser83= | |
| ENST00000439416.5:c.321C>T | ENSP00000414286.1:p.Ser107= | |
| ENST00000445208.5:c.*62C>T | ENSP00000400598.1:n.*62C>T | |
| ENST00000446007.5:c.453C>T | ENSP00000396928.1:p.Ser151= | |
| ENST00000463195.5:n.527C>T | ||
| NM_004722.3:c.453C>T | NP_004713.2:p.Ser151= | |
| XM_005250689.3:c.474C>T | XP_005250746.1:p.Ser158= | |
| XM_005250690.3:c.249C>T | XP_005250747.1:p.Ser83= | |
| XM_006716175.2:c.474C>T | XP_006716238.1:p.Ser158= | |
| XM_011516685.1:c.474C>T | XP_011514987.1:p.Ser158= | |
| XM_011516686.1:c.69C>T | XP_011514988.1:p.Ser23= | |
| XM_011516687.1:c.-156C>T | XP_011514989.1:n.-156C>T | |
| NM_001363671.1:c.474C>T | NP_001350600.1:p.Ser158= | |
| XM_005250689.4:c.474C>T | XP_005250746.1:p.Ser158= | |
| XM_005250690.4:c.249C>T | XP_005250747.1:p.Ser83= | |
| XM_006716175.4:c.474C>T | XP_006716238.1:p.Ser158= | |
| XM_017012790.2:c.69C>T | XP_016868279.1:p.Ser23= | |
| XM_017012791.2:c.-156C>T | XP_016868280.1:n.-156C>T | |
| XM_024446995.1:c.453C>T | XP_024302763.1:p.Ser151= | |
| XM_024446996.1:c.-156C>T | XP_024302764.1:n.-156C>T | |
| NM_004722.4:c.453C>T MANE Select | NP_004713.2:p.Ser151= | |
| NM_001363671.2:c.474C>T | NP_001350600.1:p.Ser158= |