Linked Data
ClinVar Variation Id:
46269
dbSNP Id:
rs62000408
ExAC:
5:90085654 T / C
gnomAD v2:
5-90085654-T-C
gnomAD v3:
5-90789837-T-C
gnomAD v4:
5-90789837-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90789837T>C , CM000667.2:g.90789837T>C | GRCh38 |
| NC_000005.9:g.90085654T>C , CM000667.1:g.90085654T>C | GRCh37 |
| NC_000005.8:g.90121410T>C | NCBI36 |
| NG_007083.1:g.236038T>C | |
| NG_007083.2:g.265494T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.14029T>C MANE Select | ENSP00000384582.2:p.Phe4677Leu | |
| ENST00000425867.3:c.2983T>C | ENSP00000392618.3:p.Phe995Leu | |
| ENST00000638510.1:n.1296T>C | ||
| ENST00000638975.1:c.658T>C | ENSP00000492630.1:p.Phe220Leu | |
| ENST00000639431.1:c.265+113628T>C | ENSP00000491057.1:n.265+113628T>C | |
| ENST00000640407.1:c.439T>C | ENSP00000491425.1:p.Phe147Leu | |
| ENST00000405460.6:c.14029T>C | ENSP00000384582.2:p.Phe4677Leu | |
| ENST00000425867.2:c.1012T>C | ENSP00000392618.2:p.Phe338Leu | |
| NM_032119.3:c.14029T>C | NP_115495.3:p.Phe4677Leu | |
| NR_003149.1:n.14042T>C | ||
| XM_011543675.1:c.14026T>C | XP_011541977.1:p.Phe4676Leu | |
| XM_011543676.1:c.13948T>C | XP_011541978.1:p.Phe4650Leu | |
| XM_011543677.1:c.11332T>C | XP_011541979.1:p.Phe3778Leu | |
| XM_011543678.1:c.14029T>C | XP_011541980.1:p.Phe4677Leu | |
| NM_032119.4:c.14029T>C MANE Select | NP_115495.3:p.Phe4677Leu | |
| XM_017009963.2:c.14050T>C | XP_016865452.1:p.Phe4684Leu | |
| XM_017009964.2:c.14047T>C | XP_016865453.1:p.Phe4683Leu | |
| XM_017009965.1:c.14047T>C | XP_016865454.1:p.Phe4683Leu | |
| XM_017009966.2:c.13969T>C | XP_016865455.1:p.Phe4657Leu | |
| XM_017009967.1:c.13954T>C | XP_016865456.1:p.Phe4652Leu | |
| XM_017009968.2:c.14050T>C | XP_016865457.1:p.Phe4684Leu | |
| XM_017009969.2:c.14050T>C | XP_016865458.1:p.Phe4684Leu | |
| XM_017009970.2:c.14050T>C | XP_016865459.1:p.Phe4684Leu | |
| XM_017009971.2:c.14050T>C | XP_016865460.1:p.Phe4684Leu | |
| XM_017009972.1:c.7168T>C | XP_016865461.1:p.Phe2390Leu | |
| XM_017009973.1:c.7147T>C | XP_016865462.1:p.Phe2383Leu | |
| NR_003149.2:n.14045T>C |