Linked Data
ClinVar Variation Id:
179932
dbSNP Id:
rs201453118
ExAC:
5:90052435 T / C
gnomAD v2:
5-90052435-T-C
gnomAD v3:
5-90756618-T-C
gnomAD v4:
5-90756618-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90756618T>C , CM000667.2:g.90756618T>C | GRCh38 |
| NC_000005.9:g.90052435T>C , CM000667.1:g.90052435T>C | GRCh37 |
| NC_000005.8:g.90088191T>C | NCBI36 |
| NG_007083.1:g.202819T>C | |
| NG_007083.2:g.232275T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.11745T>C MANE Select | ENSP00000384582.2:p.Phe3915= | |
| ENST00000425867.3:c.712-361T>C | ENSP00000392618.3:n.712-361T>C | |
| ENST00000639431.1:c.265+80409T>C | ENSP00000491057.1:n.265+80409T>C | |
| ENST00000639884.1:n.51T>C | ||
| ENST00000640374.1:n.4725-361T>C | ||
| ENST00000640464.1:n.2164T>C | ||
| ENST00000405460.6:c.11745T>C | ENSP00000384582.2:p.Phe3915= | |
| ENST00000509621.1:c.4442T>C | ||
| NM_032119.3:c.11745T>C | NP_115495.3:p.Phe3915= | |
| NR_003149.1:n.11758T>C | ||
| XM_011543675.1:c.11742T>C | XP_011541977.1:p.Phe3914= | |
| XM_011543676.1:c.11664T>C | XP_011541978.1:p.Phe3888= | |
| XM_011543677.1:c.9048T>C | XP_011541979.1:p.Phe3016= | |
| XM_011543678.1:c.11745T>C | XP_011541980.1:p.Phe3915= | |
| NM_032119.4:c.11745T>C MANE Select | NP_115495.3:p.Phe3915= | |
| XM_017009963.2:c.11766T>C | XP_016865452.1:p.Phe3922= | |
| XM_017009964.2:c.11763T>C | XP_016865453.1:p.Phe3921= | |
| XM_017009965.1:c.11763T>C | XP_016865454.1:p.Phe3921= | |
| XM_017009966.2:c.11685T>C | XP_016865455.1:p.Phe3895= | |
| XM_017009967.1:c.11670T>C | XP_016865456.1:p.Phe3890= | |
| XM_017009968.2:c.11766T>C | XP_016865457.1:p.Phe3922= | |
| XM_017009969.2:c.11766T>C | XP_016865458.1:p.Phe3922= | |
| XM_017009970.2:c.11766T>C | XP_016865459.1:p.Phe3922= | |
| XM_017009971.2:c.11766T>C | XP_016865460.1:p.Phe3922= | |
| XM_017009972.1:c.4884T>C | XP_016865461.1:p.Phe1628= | |
| XM_017009973.1:c.4863T>C | XP_016865462.1:p.Phe1621= | |
| NR_003149.2:n.11761T>C |