Linked Data
ClinVar Variation Id:
313188
dbSNP Id:
rs142007602
ExAC:
14:45605405 G / C
gnomAD v2:
14-45605405-G-C
gnomAD v3:
14-45136202-G-C
gnomAD v4:
14-45136202-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45136202G>C , CM000676.2:g.45136202G>C | GRCh38 |
| NC_000014.8:g.45605405G>C , CM000676.1:g.45605405G>C | GRCh37 |
| NC_000014.7:g.44675155G>C | NCBI36 |
| NG_007417.1:g.5270G>C , LRG_502:g.5270G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554030.2:c.171G>C | ENSP00000512773.1:p.Leu57Phe | |
| ENST00000556036.6:c.171G>C | ENSP00000450596.1:p.Leu57Phe | |
| ENST00000556250.6:c.171G>C | ENSP00000452033.2:p.Leu57Phe | |
| ENST00000696641.1:c.171G>C | ENSP00000512774.1:p.Leu57Phe | |
| ENST00000696642.1:c.171G>C | ENSP00000512775.1:p.Leu57Phe | |
| ENST00000696643.1:c.171G>C | ENSP00000512776.1:p.Leu57Phe | |
| ENST00000696646.1:c.171G>C | ENSP00000512777.1:p.Leu57Phe | |
| ENST00000696647.1:c.171G>C | ENSP00000512778.1:p.Leu57Phe | |
| ENST00000696648.1:c.171G>C | ENSP00000512779.1:p.Leu57Phe | |
| ENST00000696649.1:c.171G>C | ENSP00000512780.1:p.Leu57Phe | |
| ENST00000696650.1:n.197G>C | ||
| ENST00000696656.1:n.200G>C | ||
| ENST00000696657.1:c.171G>C | ENSP00000512784.1:p.Leu57Phe | |
| ENST00000696658.1:n.192G>C | ||
| ENST00000696662.1:c.171G>C | ENSP00000512788.1:p.Leu57Phe | |
| ENST00000696675.1:c.171G>C | ENSP00000512799.1:p.Leu57Phe | |
| ENST00000696676.1:c.171G>C | ENSP00000512800.1:p.Leu57Phe | |
| ENST00000696677.1:c.171G>C | ENSP00000512801.1:p.Leu57Phe | |
| ENST00000696678.1:n.200G>C | ||
| ENST00000696679.1:c.171G>C | ENSP00000512802.1:p.Leu57Phe | |
| ENST00000696680.1:c.171G>C | ENSP00000512803.1:p.Leu57Phe | |
| ENST00000696681.1:c.171G>C | ENSP00000512804.1:p.Leu57Phe | |
| ENST00000696682.1:c.171G>C | ENSP00000512805.1:p.Leu57Phe | |
| ENST00000267430.10:c.171G>C MANE Select | ENSP00000267430.5:p.Leu57Phe | |
| ENST00000267430.9:c.171G>C | ENSP00000267430.5:p.Leu57Phe | |
| ENST00000542564.6:c.171G>C | ENSP00000442493.2:p.Leu57Phe | |
| ENST00000556036.5:c.171G>C | ENSP00000450596.1:p.Leu57Phe | |
| NM_001308133.1:c.171G>C | NP_001295062.1:p.Leu57Phe | |
| NM_001308134.1:c.171G>C | NP_001295063.1:p.Leu57Phe | |
| NM_020937.2:c.171G>C , LRG_502t1:c.171G>C | NP_065988.1:p.Leu57Phe | |
| NM_020937.3:c.171G>C | NP_065988.1:p.Leu57Phe | |
| XM_011537034.1:c.171G>C | XP_011535336.1:p.Leu57Phe | |
| XM_011537035.1:c.171G>C | XP_011535337.1:p.Leu57Phe | |
| XM_011537036.1:c.171G>C | XP_011535338.1:p.Leu57Phe | |
| XM_011537034.2:c.171G>C | XP_011535336.1:p.Leu57Phe | |
| XM_011537035.3:c.171G>C | XP_011535337.1:p.Leu57Phe | |
| XM_017021523.1:c.171G>C | XP_016877012.1:p.Leu57Phe | |
| XM_017021525.2:c.-804G>C | XP_016877014.1:n.-804G>C | |
| XM_017021527.1:c.-882G>C | XP_016877016.1:n.-882G>C | |
| XR_001750470.1:n.263G>C | ||
| XR_001750471.2:n.263G>C | ||
| XR_001750472.1:n.263G>C | ||
| NM_020937.4:c.171G>C MANE Select | NP_065988.1:p.Leu57Phe | |
| NM_001308133.2:c.171G>C | NP_001295062.1:p.Leu57Phe | |
| NM_001308134.2:c.171G>C | NP_001295063.1:p.Leu57Phe |