Linked Data
dbSNP Id:
rs1394451784
gnomAD v3:
4-186194589-C-T
gnomAD v4:
4-186194589-C-T
COSMIC:
COSM5435723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194589C>T , CM000666.2:g.186194589C>T | GRCh38 |
| NC_000004.11:g.187115743C>T , CM000666.1:g.187115743C>T | GRCh37 |
| NC_000004.10:g.187352737C>T | NCBI36 |
| NG_007965.1:g.8070C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.304C>T MANE Select | ENSP00000368079.4:p.Leu102Phe | |
| ENST00000378802.4:c.304C>T | ENSP00000368079.4:p.Leu102Phe | |
| NM_207352.3:c.304C>T | NP_997235.3:p.Leu102Phe | |
| XM_005262935.2:c.304C>T | XP_005262992.1:p.Leu102Phe | |
| XM_006714184.2:c.-7C>T | XP_006714247.1:n.-7C>T | |
| XM_005262935.4:c.304C>T | XP_005262992.1:p.Leu102Phe | |
| XM_017008037.1:c.-7C>T | XP_016863526.1:n.-7C>T | |
| NM_207352.4:c.304C>T MANE Select | NP_997235.3:p.Leu102Phe |