Linked Data
ClinVar Variation Id:
934002
ClinVar RCV Id:
RCV001202328
dbSNP Id:
rs1754540709
gnomAD v4:
5-90745649-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90745649C>T , CM000667.2:g.90745649C>T | GRCh38 |
| NC_000005.9:g.90041466C>T , CM000667.1:g.90041466C>T | GRCh37 |
| NC_000005.8:g.90077222C>T | NCBI36 |
| NG_007083.1:g.191850C>T | |
| NG_007083.2:g.221306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.10828C>T MANE Select | ENSP00000384582.2:p.Leu3610Phe | |
| ENST00000639431.1:c.265+69440C>T | ENSP00000491057.1:n.265+69440C>T | |
| ENST00000640374.1:n.3972C>T | ||
| ENST00000640464.1:n.1247C>T | ||
| ENST00000405460.6:c.10828C>T | ENSP00000384582.2:p.Leu3610Phe | |
| ENST00000509621.1:c.3525C>T | ||
| NM_032119.3:c.10828C>T | NP_115495.3:p.Leu3610Phe | |
| NR_003149.1:n.10841C>T | ||
| XM_011543675.1:c.10825C>T | XP_011541977.1:p.Leu3609Phe | |
| XM_011543676.1:c.10747C>T | XP_011541978.1:p.Leu3583Phe | |
| XM_011543677.1:c.8131C>T | XP_011541979.1:p.Leu2711Phe | |
| XM_011543678.1:c.10828C>T | XP_011541980.1:p.Leu3610Phe | |
| XM_011543679.1:c.*50C>T | XP_011541981.1:n.*50C>T | |
| NM_032119.4:c.10828C>T MANE Select | NP_115495.3:p.Leu3610Phe | |
| XM_017009963.2:c.10849C>T | XP_016865452.1:p.Leu3617Phe | |
| XM_017009964.2:c.10846C>T | XP_016865453.1:p.Leu3616Phe | |
| XM_017009965.1:c.10846C>T | XP_016865454.1:p.Leu3616Phe | |
| XM_017009966.2:c.10768C>T | XP_016865455.1:p.Leu3590Phe | |
| XM_017009967.1:c.10753C>T | XP_016865456.1:p.Leu3585Phe | |
| XM_017009968.2:c.10849C>T | XP_016865457.1:p.Leu3617Phe | |
| XM_017009969.2:c.10849C>T | XP_016865458.1:p.Leu3617Phe | |
| XM_017009970.2:c.10849C>T | XP_016865459.1:p.Leu3617Phe | |
| XM_017009971.2:c.10849C>T | XP_016865460.1:p.Leu3617Phe | |
| XM_017009972.1:c.3967C>T | XP_016865461.1:p.Leu1323Phe | |
| XM_017009973.1:c.3946C>T | XP_016865462.1:p.Leu1316Phe | |
| XM_017009974.2:c.*50C>T | XP_016865463.1:n.*50C>T | |
| NR_003149.2:n.10844C>T |