Linked Data
ClinVar Variation Id:
279679
dbSNP Id:
rs886041126
gnomAD v2:
7-99704464-C-T
gnomAD v3:
7-100106841-C-T
gnomAD v4:
7-100106841-C-T
COSMIC:
COSM453698
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100106841C>T , CM000669.2:g.100106841C>T | GRCh38 |
| NC_000007.13:g.99704464C>T , CM000669.1:g.99704464C>T | GRCh37 |
| NC_000007.12:g.99542400C>T | NCBI36 |
| NG_016312.1:g.10335C>T | |
| NG_029454.1:g.18018G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.1198C>T | ENSP00000393723.2:p.Arg400Ter | |
| ENST00000495154.2:n.1580C>T | ||
| ENST00000713591.1:c.1321C>T | ENSP00000518888.1:p.Arg441Ter | |
| ENST00000359593.9:c.1321C>T MANE Select | ENSP00000352603.4:p.Arg441Ter | |
| ENST00000359593.8:c.1321C>T | ENSP00000352603.4:p.Arg441Ter | |
| ENST00000416938.5:c.1210C>T | ||
| ENST00000421755.5:c.1321C>T | ENSP00000412185.1:p.Arg441Ter | |
| ENST00000422582.5:c.937C>T | ENSP00000406676.1:p.Arg313Ter | |
| ENST00000429084.5:c.1342C>T | ENSP00000403663.1:p.Arg448Ter | |
| ENST00000445208.5:c.*930C>T | ENSP00000400598.1:n.*930C>T | |
| ENST00000445295.1:c.375C>T | ||
| ENST00000450807.5:c.393+327C>T | ENSP00000391585.1:n.393+327C>T | |
| NM_004722.3:c.1321C>T | NP_004713.2:p.Arg441Ter | |
| XM_005250689.3:c.1342C>T | XP_005250746.1:p.Arg448Ter | |
| XM_005250690.3:c.1117C>T | XP_005250747.1:p.Arg373Ter | |
| XM_006716175.2:c.1219C>T | XP_006716238.1:p.Arg407Ter | |
| XM_011516685.1:c.1342C>T | XP_011514987.1:p.Arg448Ter | |
| XM_011516686.1:c.937C>T | XP_011514988.1:p.Arg313Ter | |
| XM_011516687.1:c.646C>T | XP_011514989.1:p.Arg216Ter | |
| NM_001363671.1:c.1342C>T | NP_001350600.1:p.Arg448Ter | |
| XM_005250689.4:c.1342C>T | XP_005250746.1:p.Arg448Ter | |
| XM_005250690.4:c.1117C>T | XP_005250747.1:p.Arg373Ter | |
| XM_006716175.4:c.1219C>T | XP_006716238.1:p.Arg407Ter | |
| XM_017012790.2:c.814C>T | XP_016868279.1:p.Arg272Ter | |
| XM_017012791.2:c.646C>T | XP_016868280.1:p.Arg216Ter | |
| XM_024446995.1:c.1198C>T | XP_024302763.1:p.Arg400Ter | |
| XM_024446996.1:c.646C>T | XP_024302764.1:p.Arg216Ter | |
| NM_004722.4:c.1321C>T MANE Select | NP_004713.2:p.Arg441Ter | |
| NM_001363671.2:c.1342C>T | NP_001350600.1:p.Arg448Ter |