Linked Data
ClinVar Variation Id:
1412897
ClinVar RCV Id:
RCV001943307
dbSNP Id:
rs368673102
ExAC:
1:27117329 G / T
gnomAD v2:
1-27117329-G-T
gnomAD v3:
1-26790838-G-T
gnomAD v4:
1-26790838-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26790838G>T , CM000663.2:g.26790838G>T | GRCh38 |
| NC_000001.10:g.27117329G>T , CM000663.1:g.27117329G>T | GRCh37 |
| NC_000001.9:g.26989916G>T | NCBI36 |
| NG_028133.1:g.7876G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686194.1:c.23G>T | ENSP00000509240.1:p.Arg8Leu | |
| ENST00000686325.1:c.23G>T | ENSP00000509836.1:p.Arg8Leu | |
| ENST00000686422.1:n.933G>T | ||
| ENST00000686655.1:c.-37+2849G>T | ENSP00000510382.1:n.-37+2849G>T | |
| ENST00000687468.1:c.23G>T | ENSP00000510051.1:p.Arg8Leu | |
| ENST00000688522.1:c.23G>T | ENSP00000508665.1:p.Arg8Leu | |
| ENST00000688730.1:c.-304+2849G>T | ENSP00000508720.1:n.-304+2849G>T | |
| ENST00000689130.1:c.-304+2849G>T | ENSP00000509671.1:n.-304+2849G>T | |
| ENST00000691135.1:c.23G>T | ENSP00000510357.1:p.Arg8Leu | |
| ENST00000691454.1:c.23G>T | ENSP00000509275.1:p.Arg8Leu | |
| ENST00000693629.1:c.23G>T | ENSP00000509280.1:p.Arg8Leu | |
| ENST00000078527.9:c.23G>T | ENSP00000078527.4:p.Arg8Leu | |
| ENST00000374145.6:c.23G>T | ENSP00000363260.1:p.Arg8Leu | |
| ENST00000431541.6:c.23G>T | ENSP00000388425.2:p.Arg8Leu | |
| ENST00000455364.2:c.23G>T | ENSP00000406080.2:p.Arg8Leu | |
| ENST00000674202.1:c.23G>T MANE Select | ENSP00000501479.1:p.Arg8Leu | |
| ENST00000674222.1:c.23G>T | ENSP00000501335.1:p.Arg8Leu | |
| ENST00000674273.1:c.23G>T | ENSP00000501527.1:p.Arg8Leu | |
| ENST00000674317.1:n.328G>T | ||
| ENST00000674335.1:c.-304+3032G>T | ENSP00000501446.1:n.-304+3032G>T | |
| ENST00000078527.8:c.23G>T | ENSP00000078527.4:p.Arg8Leu | |
| ENST00000374145.5:c.23G>T | ENSP00000363260.1:p.Arg8Leu | |
| ENST00000430292.5:c.23G>T | ENSP00000399067.1:p.Arg8Leu | |
| ENST00000431541.5:c.23G>T | ENSP00000388425.1:p.Arg8Leu | |
| ENST00000455364.1:c.23G>T | ENSP00000406080.1:p.Arg8Leu | |
| ENST00000472757.5:c.23G>T | ENSP00000436884.1:p.Arg8Leu | |
| NM_001202554.1:c.23G>T | NP_001189483.1:p.Arg8Leu | |
| NM_017837.3:c.23G>T | NP_060307.2:p.Arg8Leu | |
| NM_001202554.2:c.23G>T | NP_001189483.1:p.Arg8Leu | |
| NM_001374478.1:c.23G>T | NP_001361407.1:p.Arg8Leu | |
| NM_001374480.1:c.23G>T | NP_001361409.1:p.Arg8Leu | |
| NM_001374481.1:c.23G>T | NP_001361410.1:p.Arg8Leu | |
| NM_001374482.1:c.23G>T | NP_001361411.1:p.Arg8Leu | |
| NM_001374483.1:c.-304+3032G>T | NP_001361412.1:n.-304+3032G>T | |
| NM_001374484.1:c.23G>T | NP_001361413.1:p.Arg8Leu | |
| NM_001374485.1:c.23G>T | NP_001361414.1:p.Arg8Leu | |
| NM_001374486.1:c.23G>T | NP_001361415.1:p.Arg8Leu | |
| NM_017837.4:c.23G>T MANE Select | NP_060307.2:p.Arg8Leu | |
| NR_164651.1:n.521G>T | ||
| NR_164652.1:n.399G>T |