Linked Data
ClinVar Variation Id:
1675661
ClinVar RCV Id:
RCV002211390
dbSNP Id:
rs2142393377
gnomAD v4:
17-18159341-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18159341T>C , CM000679.2:g.18159341T>C | GRCh38 |
| NC_000017.10:g.18062655T>C , CM000679.1:g.18062655T>C | GRCh37 |
| NC_000017.9:g.18003380T>C | NCBI36 |
| NG_011634.1:g.55636T>C | |
| NG_011634.2:g.55636T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.1561T>C | ||
| ENST00000643693.1:n.1025T>C | ||
| ENST00000644795.1:c.1015T>C | ENSP00000495720.1:p.Phe339Leu | |
| ENST00000646782.1:n.1957T>C | ||
| ENST00000647165.2:c.9223T>C MANE Select | ENSP00000495481.1:p.Phe3075Leu | |
| ENST00000651214.1:n.1728T>C | ||
| ENST00000205890.9:c.9223T>C | ENSP00000205890.5:p.Phe3075Leu | |
| ENST00000418233.7:c.1015T>C | ENSP00000408800.3:p.Phe339Leu | |
| ENST00000433411.7:n.160T>C | ||
| ENST00000445289.6:n.316+1441T>C | ||
| ENST00000556535.5:c.85T>C | ENSP00000451782.1:p.Phe29Leu | |
| ENST00000557190.5:n.125T>C | ||
| ENST00000557655.5:c.85T>C | ENSP00000451925.1:p.Phe29Leu | |
| ENST00000578472.5:c.85T>C | ENSP00000467989.1:p.Phe29Leu | |
| ENST00000615845.4:c.9223T>C | ENSP00000481642.1:p.Phe3075Leu | |
| NM_016239.3:c.9223T>C | NP_057323.3:p.Phe3075Leu | |
| XM_011523921.1:c.9217T>C | XP_011522223.1:p.Phe3073Leu | |
| XM_017024714.2:c.9163T>C | XP_016880203.1:p.Phe3055Leu | |
| XM_017024715.2:c.9226T>C | XP_016880204.1:p.Phe3076Leu | |
| NM_016239.4:c.9223T>C MANE Select | NP_057323.3:p.Phe3075Leu |