Linked Data
ClinVar Variation Id:
163601
dbSNP Id:
rs200816323
ExAC:
5:90059182 G / T
gnomAD v2:
5-90059182-G-T
gnomAD v3:
5-90763365-G-T
gnomAD v4:
5-90763365-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90763365G>T , CM000667.2:g.90763365G>T | GRCh38 |
| NC_000005.9:g.90059182G>T , CM000667.1:g.90059182G>T | GRCh37 |
| NC_000005.8:g.90094938G>T | NCBI36 |
| NG_007083.1:g.209566G>T | |
| NG_007083.2:g.239022G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12181G>T MANE Select | ENSP00000384582.2:p.Val4061Phe | |
| ENST00000425867.3:c.1135G>T | ENSP00000392618.3:p.Val379Phe | |
| ENST00000639431.1:c.265+87156G>T | ENSP00000491057.1:n.265+87156G>T | |
| ENST00000640464.1:n.2600G>T | ||
| ENST00000640729.1:n.758G>T | ||
| ENST00000405460.6:c.12181G>T | ENSP00000384582.2:p.Val4061Phe | |
| NM_032119.3:c.12181G>T | NP_115495.3:p.Val4061Phe | |
| NR_003149.1:n.12194G>T | ||
| XM_011543675.1:c.12178G>T | XP_011541977.1:p.Val4060Phe | |
| XM_011543676.1:c.12100G>T | XP_011541978.1:p.Val4034Phe | |
| XM_011543677.1:c.9484G>T | XP_011541979.1:p.Val3162Phe | |
| XM_011543678.1:c.12181G>T | XP_011541980.1:p.Val4061Phe | |
| NM_032119.4:c.12181G>T MANE Select | NP_115495.3:p.Val4061Phe | |
| XM_017009963.2:c.12202G>T | XP_016865452.1:p.Val4068Phe | |
| XM_017009964.2:c.12199G>T | XP_016865453.1:p.Val4067Phe | |
| XM_017009965.1:c.12199G>T | XP_016865454.1:p.Val4067Phe | |
| XM_017009966.2:c.12121G>T | XP_016865455.1:p.Val4041Phe | |
| XM_017009967.1:c.12106G>T | XP_016865456.1:p.Val4036Phe | |
| XM_017009968.2:c.12202G>T | XP_016865457.1:p.Val4068Phe | |
| XM_017009969.2:c.12202G>T | XP_016865458.1:p.Val4068Phe | |
| XM_017009970.2:c.12202G>T | XP_016865459.1:p.Val4068Phe | |
| XM_017009971.2:c.12202G>T | XP_016865460.1:p.Val4068Phe | |
| XM_017009972.1:c.5320G>T | XP_016865461.1:p.Val1774Phe | |
| XM_017009973.1:c.5299G>T | XP_016865462.1:p.Val1767Phe | |
| NR_003149.2:n.12197G>T |