Linked Data
ClinVar Variation Id:
217268
dbSNP Id:
rs879253797
gnomAD v3:
16-89556954-C-T
gnomAD v4:
16-89556954-C-T
PubMed:
PMID:26626314
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89556954C>T , CM000678.2:g.89556954C>T | GRCh38 |
| NC_000016.9:g.89623362C>T , CM000678.1:g.89623362C>T | GRCh37 |
| NC_000016.8:g.88150863C>T | NCBI36 |
| NG_008082.1:g.53558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.2228C>T | ENSP00000268704.3:p.Pro743Leu | |
| ENST00000561702.6:n.2921C>T | ||
| ENST00000565891.2:c.273C>T | ENSP00000495004.1:n.273C>T | |
| ENST00000569720.2:n.932C>T | ||
| ENST00000569820.6:c.2522C>T | ||
| ENST00000642226.1:n.2312C>T | ||
| ENST00000642334.1:c.3667C>T | ||
| ENST00000642814.1:n.1664C>T | ||
| ENST00000642984.1:n.1972C>T | ||
| ENST00000643105.1:c.2955C>T | ||
| ENST00000643350.1:n.1663C>T | ||
| ENST00000643409.1:n.2674C>T | ||
| ENST00000643496.1:n.2066C>T | ||
| ENST00000643649.1:c.2138C>T | ENSP00000494806.1:p.Pro713Leu | |
| ENST00000643668.1:c.*2543C>T | ENSP00000494903.1:n.*2543C>T | |
| ENST00000643724.1:c.*1297C>T | ENSP00000496335.1:n.*1297C>T | |
| ENST00000643954.1:c.3148C>T | ||
| ENST00000644171.1:n.3009C>T | ||
| ENST00000644210.1:c.*821C>T | ENSP00000495675.1:n.*821C>T | |
| ENST00000644225.1:n.3788C>T | ||
| ENST00000644281.1:n.2933C>T | ||
| ENST00000644464.1:n.2424C>T | ||
| ENST00000644498.1:c.*2068C>T | ENSP00000496244.1:n.*2068C>T | |
| ENST00000644671.1:c.1906C>T | ||
| ENST00000644751.1:c.1437C>T | ||
| ENST00000644781.1:c.2204C>T | ENSP00000495473.1:p.Pro735Leu | |
| ENST00000644901.1:c.*2643C>T | ENSP00000493797.1:n.*2643C>T | |
| ENST00000645042.1:c.*1023C>T | ENSP00000493908.1:n.*1023C>T | |
| ENST00000645063.1:c.*27C>T | ENSP00000493590.1:n.*27C>T | |
| ENST00000645392.1:n.2590C>T | ||
| ENST00000645742.1:n.883C>T | ||
| ENST00000645818.2:c.2249C>T MANE Select | ENSP00000495795.2:p.Pro750Leu | |
| ENST00000645842.1:n.2094C>T | ||
| ENST00000645886.1:c.1754C>T | ||
| ENST00000645897.1:c.1787C>T | ENSP00000495293.1:p.Pro596Leu | |
| ENST00000645952.1:n.2279C>T | ||
| ENST00000645977.1:n.3367C>T | ||
| ENST00000646005.1:n.2007C>T | ||
| ENST00000646263.1:c.*1122C>T | ENSP00000494119.1:n.*1122C>T | |
| ENST00000646303.1:c.2117C>T | ENSP00000494160.1:p.Pro706Leu | |
| ENST00000646399.1:c.3143C>T | ||
| ENST00000646445.1:c.1107C>T | ||
| ENST00000646531.1:c.*872C>T | ENSP00000495185.1:n.*872C>T | |
| ENST00000646589.1:c.*1377C>T | ENSP00000494739.1:n.*1377C>T | |
| ENST00000646716.1:c.*27C>T | ENSP00000495593.1:n.*27C>T | |
| ENST00000646826.1:c.*922C>T | ENSP00000495123.1:n.*922C>T | |
| ENST00000646930.1:c.*2178C>T | ENSP00000495219.1:n.*2178C>T | |
| ENST00000647032.1:c.1880C>T | ||
| ENST00000647079.1:c.1841C>T | ENSP00000495967.1:p.Pro614Leu | |
| ENST00000647123.1:n.2206C>T | ||
| ENST00000647227.1:c.1887C>T | ||
| ENST00000647302.1:n.2899C>T | ||
| ENST00000647476.1:n.3459C>T | ||
| ENST00000647491.1:n.1993C>T | ||
| ENST00000268704.6:c.2249C>T | ENSP00000268704.2:p.Pro750Leu | |
| ENST00000561702.5:n.1234C>T | ||
| ENST00000561911.5:c.849C>T | ENSP00000457387.1:n.849C>T | |
| ENST00000565891.1:n.290C>T | ||
| ENST00000569720.1:n.440C>T | ||
| ENST00000569820.5:c.1491C>T | ||
| ENST00000620811.4:c.*295C>T | ENSP00000478030.1:n.*295C>T | |
| NM_003119.3:c.2249C>T | NP_003110.1:p.Pro750Leu | |
| XM_006721264.2:c.*27C>T | XP_006721327.1:n.*27C>T | |
| NM_001363850.1:c.*27C>T | NP_001350779.1:n.*27C>T | |
| XM_006721264.4:c.*27C>T | XP_006721327.1:n.*27C>T | |
| XR_001751971.2:n.2598C>T | ||
| XR_001751972.2:n.3885C>T | ||
| NM_003119.4:c.2249C>T MANE Select | NP_003110.1:p.Pro750Leu |