Linked Data
ClinVar Variation Id:
1386332
ClinVar RCV Id:
RCV001875276
dbSNP Id:
rs766715021
ExAC:
14:45628479 T / C
gnomAD v2:
14-45628479-T-C
gnomAD v4:
14-45159276-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45159276T>C , CM000676.2:g.45159276T>C | GRCh38 |
| NC_000014.8:g.45628479T>C , CM000676.1:g.45628479T>C | GRCh37 |
| NC_000014.7:g.44698229T>C | NCBI36 |
| NG_007417.1:g.28344T>C , LRG_502:g.28344T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556036.6:c.1577T>C | ENSP00000450596.1:p.Leu526Pro | |
| ENST00000556250.6:c.1577T>C | ENSP00000452033.2:p.Leu526Pro | |
| ENST00000696641.1:c.1418T>C | ENSP00000512774.1:p.Leu473Pro | |
| ENST00000696642.1:c.*388T>C | ENSP00000512775.1:n.*388T>C | |
| ENST00000696643.1:c.1577T>C | ENSP00000512776.1:p.Leu526Pro | |
| ENST00000696646.1:c.*388T>C | ENSP00000512777.1:n.*388T>C | |
| ENST00000696647.1:c.1577T>C | ENSP00000512778.1:p.Leu526Pro | |
| ENST00000696648.1:c.1577T>C | ENSP00000512779.1:p.Leu526Pro | |
| ENST00000696649.1:c.1577T>C | ENSP00000512780.1:p.Leu526Pro | |
| ENST00000696650.1:n.1525T>C | ||
| ENST00000696658.1:n.2127T>C | ||
| ENST00000696662.1:c.1499T>C | ENSP00000512788.1:p.Leu500Pro | |
| ENST00000696663.1:c.394T>C | ||
| ENST00000696664.1:c.394T>C | ||
| ENST00000696675.1:c.1577T>C | ENSP00000512799.1:p.Leu526Pro | |
| ENST00000696680.1:c.1445T>C | ENSP00000512803.1:p.Leu482Pro | |
| ENST00000696681.1:c.*388T>C | ENSP00000512804.1:n.*388T>C | |
| ENST00000696682.1:c.1577T>C | ENSP00000512805.1:p.Leu526Pro | |
| ENST00000696683.1:c.394T>C | ||
| ENST00000696684.1:c.394T>C | ||
| ENST00000696685.1:c.394T>C | ||
| ENST00000267430.10:c.1577T>C MANE Select | ENSP00000267430.5:p.Leu526Pro | |
| ENST00000267430.9:c.1577T>C | ENSP00000267430.5:p.Leu526Pro | |
| ENST00000542564.6:c.1499T>C | ENSP00000442493.2:p.Leu500Pro | |
| ENST00000556036.5:c.1577T>C | ENSP00000450596.1:p.Leu526Pro | |
| ENST00000556250.5:c.332T>C | ENSP00000452033.1:p.Leu111Pro | |
| NM_001308133.1:c.1499T>C | NP_001295062.1:p.Leu500Pro | |
| NM_001308134.1:c.1577T>C | NP_001295063.1:p.Leu526Pro | |
| NM_020937.2:c.1577T>C , LRG_502t1:c.1577T>C | NP_065988.1:p.Leu526Pro | |
| NM_020937.3:c.1577T>C | NP_065988.1:p.Leu526Pro | |
| XM_011537034.1:c.1577T>C | XP_011535336.1:p.Leu526Pro | |
| XM_011537035.1:c.1499T>C | XP_011535337.1:p.Leu500Pro | |
| XM_011537036.1:c.1577T>C | XP_011535338.1:p.Leu526Pro | |
| XM_011537034.2:c.1577T>C | XP_011535336.1:p.Leu526Pro | |
| XM_011537035.3:c.1499T>C | XP_011535337.1:p.Leu500Pro | |
| XM_017021523.1:c.1577T>C | XP_016877012.1:p.Leu526Pro | |
| XM_017021524.2:c.614T>C | XP_016877013.1:p.Leu205Pro | |
| XM_017021525.2:c.392T>C | XP_016877014.1:p.Leu131Pro | |
| XM_017021526.2:c.392T>C | XP_016877015.1:p.Leu131Pro | |
| XM_017021527.1:c.392T>C | XP_016877016.1:p.Leu131Pro | |
| XR_001750470.1:n.1669T>C | ||
| XR_001750471.2:n.1669T>C | ||
| XR_001750472.1:n.1669T>C | ||
| NM_020937.4:c.1577T>C MANE Select | NP_065988.1:p.Leu526Pro | |
| NM_001308133.2:c.1499T>C | NP_001295062.1:p.Leu500Pro | |
| NM_001308134.2:c.1577T>C | NP_001295063.1:p.Leu526Pro |