Linked Data
ClinVar Variation Id:
128404
dbSNP Id:
rs4134932
ExAC:
7:99704448 C / T
gnomAD v2:
7-99704448-C-T
gnomAD v3:
7-100106825-C-T
gnomAD v4:
7-100106825-C-T
COSMIC:
COSM3698647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100106825C>T , CM000669.2:g.100106825C>T | GRCh38 |
| NC_000007.13:g.99704448C>T , CM000669.1:g.99704448C>T | GRCh37 |
| NC_000007.12:g.99542384C>T | NCBI36 |
| NG_016312.1:g.10319C>T | |
| NG_029454.1:g.18034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.1182C>T | ENSP00000393723.2:p.Asn394= | |
| ENST00000495154.2:n.1564C>T | ||
| ENST00000713591.1:c.1305C>T | ENSP00000518888.1:p.Asn435= | |
| ENST00000359593.9:c.1305C>T MANE Select | ENSP00000352603.4:p.Asn435= | |
| ENST00000359593.8:c.1305C>T | ENSP00000352603.4:p.Asn435= | |
| ENST00000416938.5:c.1194C>T | ||
| ENST00000421755.5:c.1305C>T | ENSP00000412185.1:p.Asn435= | |
| ENST00000422582.5:c.921C>T | ENSP00000406676.1:p.Asn307= | |
| ENST00000429084.5:c.1326C>T | ENSP00000403663.1:p.Asn442= | |
| ENST00000445208.5:c.*914C>T | ENSP00000400598.1:n.*914C>T | |
| ENST00000445295.1:c.359C>T | ||
| ENST00000450807.5:c.393+311C>T | ENSP00000391585.1:n.393+311C>T | |
| NM_004722.3:c.1305C>T | NP_004713.2:p.Asn435= | |
| XM_005250689.3:c.1326C>T | XP_005250746.1:p.Asn442= | |
| XM_005250690.3:c.1101C>T | XP_005250747.1:p.Asn367= | |
| XM_006716175.2:c.1203C>T | XP_006716238.1:p.Asn401= | |
| XM_011516685.1:c.1326C>T | XP_011514987.1:p.Asn442= | |
| XM_011516686.1:c.921C>T | XP_011514988.1:p.Asn307= | |
| XM_011516687.1:c.630C>T | XP_011514989.1:p.Asn210= | |
| NM_001363671.1:c.1326C>T | NP_001350600.1:p.Asn442= | |
| XM_005250689.4:c.1326C>T | XP_005250746.1:p.Asn442= | |
| XM_005250690.4:c.1101C>T | XP_005250747.1:p.Asn367= | |
| XM_006716175.4:c.1203C>T | XP_006716238.1:p.Asn401= | |
| XM_017012790.2:c.798C>T | XP_016868279.1:p.Asn266= | |
| XM_017012791.2:c.630C>T | XP_016868280.1:p.Asn210= | |
| XM_024446995.1:c.1182C>T | XP_024302763.1:p.Asn394= | |
| XM_024446996.1:c.630C>T | XP_024302764.1:p.Asn210= | |
| NM_004722.4:c.1305C>T MANE Select | NP_004713.2:p.Asn435= | |
| NM_001363671.2:c.1326C>T | NP_001350600.1:p.Asn442= |