Linked Data
ClinVar Variation Id:
198377
dbSNP Id:
rs199792315
ExAC:
5:90085630 T / C
gnomAD v2:
5-90085630-T-C
gnomAD v3:
5-90789813-T-C
gnomAD v4:
5-90789813-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90789813T>C , CM000667.2:g.90789813T>C | GRCh38 |
| NC_000005.9:g.90085630T>C , CM000667.1:g.90085630T>C | GRCh37 |
| NC_000005.8:g.90121386T>C | NCBI36 |
| NG_007083.1:g.236014T>C | |
| NG_007083.2:g.265470T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.14005T>C MANE Select | ENSP00000384582.2:p.Phe4669Leu | |
| ENST00000425867.3:c.2959T>C | ENSP00000392618.3:p.Phe987Leu | |
| ENST00000638510.1:n.1272T>C | ||
| ENST00000638975.1:c.634T>C | ENSP00000492630.1:p.Phe212Leu | |
| ENST00000639431.1:c.265+113604T>C | ENSP00000491057.1:n.265+113604T>C | |
| ENST00000640407.1:c.415T>C | ENSP00000491425.1:p.Phe139Leu | |
| ENST00000405460.6:c.14005T>C | ENSP00000384582.2:p.Phe4669Leu | |
| ENST00000425867.2:c.988T>C | ENSP00000392618.2:p.Phe330Leu | |
| NM_032119.3:c.14005T>C | NP_115495.3:p.Phe4669Leu | |
| NR_003149.1:n.14018T>C | ||
| XM_011543675.1:c.14002T>C | XP_011541977.1:p.Phe4668Leu | |
| XM_011543676.1:c.13924T>C | XP_011541978.1:p.Phe4642Leu | |
| XM_011543677.1:c.11308T>C | XP_011541979.1:p.Phe3770Leu | |
| XM_011543678.1:c.14005T>C | XP_011541980.1:p.Phe4669Leu | |
| NM_032119.4:c.14005T>C MANE Select | NP_115495.3:p.Phe4669Leu | |
| XM_017009963.2:c.14026T>C | XP_016865452.1:p.Phe4676Leu | |
| XM_017009964.2:c.14023T>C | XP_016865453.1:p.Phe4675Leu | |
| XM_017009965.1:c.14023T>C | XP_016865454.1:p.Phe4675Leu | |
| XM_017009966.2:c.13945T>C | XP_016865455.1:p.Phe4649Leu | |
| XM_017009967.1:c.13930T>C | XP_016865456.1:p.Phe4644Leu | |
| XM_017009968.2:c.14026T>C | XP_016865457.1:p.Phe4676Leu | |
| XM_017009969.2:c.14026T>C | XP_016865458.1:p.Phe4676Leu | |
| XM_017009970.2:c.14026T>C | XP_016865459.1:p.Phe4676Leu | |
| XM_017009971.2:c.14026T>C | XP_016865460.1:p.Phe4676Leu | |
| XM_017009972.1:c.7144T>C | XP_016865461.1:p.Phe2382Leu | |
| XM_017009973.1:c.7123T>C | XP_016865462.1:p.Phe2375Leu | |
| NR_003149.2:n.14021T>C |