Linked Data
ClinVar Variation Id:
1471588
ClinVar RCV Id:
RCV001966854
dbSNP Id:
rs780956028
gnomAD v3:
2-113132717-G-T
gnomAD v4:
2-113132717-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113132717G>T , CM000664.2:g.113132717G>T | GRCh38 |
| NC_000002.11:g.113890294G>T , CM000664.1:g.113890294G>T | GRCh37 |
| NC_000002.10:g.113606765G>T | NCBI36 |
| NG_021240.1:g.19825G>T , LRG_188:g.19825G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.278G>T | ENSP00000387210.1:p.Arg93Leu | |
| ENST00000696879.1:c.278G>T | ENSP00000512947.1:p.Arg93Leu | |
| ENST00000696880.1:c.278G>T | ENSP00000512948.1:p.Arg93Leu | |
| ENST00000696881.1:c.278G>T | ENSP00000512949.1:p.Arg93Leu | |
| ENST00000696882.1:c.*150G>T | ENSP00000512950.1:n.*150G>T | |
| ENST00000696883.1:n.325G>T | ||
| ENST00000409930.4:c.380G>T MANE Select | ENSP00000387173.3:p.Arg127Leu | |
| ENST00000259206.9:c.389G>T | ENSP00000259206.5:p.Arg130Leu | |
| ENST00000354115.6:c.326G>T | ENSP00000329072.3:p.Arg109Leu | |
| ENST00000361779.7:c.278G>T | ENSP00000354816.3:p.Arg93Leu | |
| ENST00000409052.5:c.278G>T | ENSP00000387210.1:p.Arg93Leu | |
| ENST00000409930.3:c.380G>T | ENSP00000387173.3:p.Arg127Leu | |
| NM_000577.4:c.326G>T | NP_000568.1:p.Arg109Leu | |
| NM_173841.2:c.389G>T , LRG_188t1:c.389G>T | NP_776213.1:p.Arg130Leu | |
| NM_173842.2:c.380G>T | NP_776214.1:p.Arg127Leu | |
| NM_173843.2:c.278G>T | NP_776215.1:p.Arg93Leu | |
| XM_005263661.3:c.278G>T | XP_005263718.1:p.Arg93Leu | |
| XM_006712497.2:c.278G>T | XP_006712560.1:p.Arg93Leu | |
| XM_011511121.1:c.278G>T | XP_011509423.1:p.Arg93Leu | |
| NM_001318914.1:c.278G>T | NP_001305843.1:p.Arg93Leu | |
| XM_005263661.4:c.278G>T | XP_005263718.1:p.Arg93Leu | |
| NM_000577.5:c.326G>T | NP_000568.1:p.Arg109Leu | |
| NM_001318914.2:c.278G>T | NP_001305843.1:p.Arg93Leu | |
| NM_173842.3:c.380G>T MANE Select | NP_776214.1:p.Arg127Leu | |
| NM_173843.3:c.278G>T | NP_776215.1:p.Arg93Leu | |
| NM_001379360.1:c.278G>T | NP_001366289.1:p.Arg93Leu | |
| NM_173841.3:c.389G>T | NP_776213.1:p.Arg130Leu |