Linked Data
ClinVar Variation Id:
522649
ClinVar RCV Id:
RCV000625788
dbSNP Id:
rs760907496
ExAC:
7:99704368 T / C
gnomAD v2:
7-99704368-T-C
gnomAD v4:
7-100106745-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100106745T>C , CM000669.2:g.100106745T>C | GRCh38 |
| NC_000007.13:g.99704368T>C , CM000669.1:g.99704368T>C | GRCh37 |
| NC_000007.12:g.99542304T>C | NCBI36 |
| NG_016312.1:g.10239T>C | |
| NG_029454.1:g.18114A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.1138-36T>C | ENSP00000393723.2:n.1138-36T>C | |
| ENST00000495154.2:n.1484T>C | ||
| ENST00000713591.1:c.1225T>C | ENSP00000518888.1:p.Phe409Leu | |
| ENST00000359593.9:c.1225T>C MANE Select | ENSP00000352603.4:p.Phe409Leu | |
| ENST00000359593.8:c.1225T>C | ENSP00000352603.4:p.Phe409Leu | |
| ENST00000416938.5:c.1114T>C | ||
| ENST00000421755.5:c.1225T>C | ENSP00000412185.1:p.Phe409Leu | |
| ENST00000422582.5:c.841T>C | ENSP00000406676.1:p.Phe281Leu | |
| ENST00000429084.5:c.1246T>C | ENSP00000403663.1:p.Phe416Leu | |
| ENST00000445208.5:c.*834T>C | ENSP00000400598.1:n.*834T>C | |
| ENST00000445295.1:c.315-36T>C | ||
| ENST00000450807.5:c.393+231T>C | ENSP00000391585.1:n.393+231T>C | |
| ENST00000489387.1:n.515T>C | ||
| NM_004722.3:c.1225T>C | NP_004713.2:p.Phe409Leu | |
| XM_005250689.3:c.1246T>C | XP_005250746.1:p.Phe416Leu | |
| XM_005250690.3:c.1021T>C | XP_005250747.1:p.Phe341Leu | |
| XM_006716175.2:c.1159-36T>C | XP_006716238.1:n.1159-36T>C | |
| XM_011516685.1:c.1246T>C | XP_011514987.1:p.Phe416Leu | |
| XM_011516686.1:c.841T>C | XP_011514988.1:p.Phe281Leu | |
| XM_011516687.1:c.550T>C | XP_011514989.1:p.Phe184Leu | |
| NM_001363671.1:c.1246T>C | NP_001350600.1:p.Phe416Leu | |
| XM_005250689.4:c.1246T>C | XP_005250746.1:p.Phe416Leu | |
| XM_005250690.4:c.1021T>C | XP_005250747.1:p.Phe341Leu | |
| XM_006716175.4:c.1159-36T>C | XP_006716238.1:n.1159-36T>C | |
| XM_017012790.2:c.754-36T>C | XP_016868279.1:n.754-36T>C | |
| XM_017012791.2:c.550T>C | XP_016868280.1:p.Phe184Leu | |
| XM_024446995.1:c.1138-36T>C | XP_024302763.1:n.1138-36T>C | |
| XM_024446996.1:c.550T>C | XP_024302764.1:p.Phe184Leu | |
| NM_004722.4:c.1225T>C MANE Select | NP_004713.2:p.Phe409Leu | |
| NM_001363671.2:c.1246T>C | NP_001350600.1:p.Phe416Leu |