Linked Data
ClinVar Variation Id:
292619
dbSNP Id:
rs143245407
ExAC:
1:151318757 C / T
gnomAD v2:
1-151318757-C-T
gnomAD v3:
1-151346281-C-T
gnomAD v4:
1-151346281-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151346281C>T , CM000663.2:g.151346281C>T | GRCh38 |
| NC_000001.10:g.151318757C>T , CM000663.1:g.151318757C>T | GRCh37 |
| NC_000001.9:g.149585381C>T | NCBI36 |
| NG_007576.1:g.6013G>A , LRG_101:g.6013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452671.7:c.40G>A MANE Select | ENSP00000389130.2:p.Gly14Arg | |
| ENST00000290524.8:c.40G>A | ENSP00000290524.4:p.Gly14Arg | |
| ENST00000368870.6:c.40G>A | ENSP00000357864.2:p.Gly14Arg | |
| ENST00000392746.7:c.40G>A | ENSP00000376502.3:p.Gly14Arg | |
| ENST00000412774.5:c.40G>A | ENSP00000396810.1:p.Gly14Arg | |
| ENST00000421986.5:c.40G>A | ENSP00000399372.1:p.Gly14Arg | |
| ENST00000422595.5:c.40G>A | ENSP00000399095.1:p.Gly14Arg | |
| ENST00000430227.5:c.40G>A | ENSP00000387618.1:p.Gly14Arg | |
| ENST00000435314.5:c.40G>A | ENSP00000415012.1:p.Gly14Arg | |
| ENST00000436271.5:c.40G>A | ENSP00000390720.1:p.Gly14Arg | |
| ENST00000437327.5:c.40G>A | ENSP00000413153.1:p.Gly14Arg | |
| ENST00000444392.5:c.40G>A | ENSP00000412900.1:p.Gly14Arg | |
| ENST00000450506.5:c.40G>A | ENSP00000398666.1:p.Gly14Arg | |
| ENST00000452456.1:c.40G>A | ENSP00000405067.1:p.Gly14Arg | |
| ENST00000452671.6:c.40G>A | ENSP00000389130.2:p.Gly14Arg | |
| ENST00000458484.5:c.40G>A | ENSP00000409187.1:p.Gly14Arg | |
| ENST00000478564.5:n.214G>A | ||
| ENST00000479681.5:n.273G>A | ||
| ENST00000494217.5:n.255G>A | ||
| NM_000449.3:c.40G>A , LRG_101t1:c.40G>A | NP_000440.1:p.Gly14Arg | |
| NM_001025603.1:c.40G>A | NP_001020774.1:p.Gly14Arg | |
| XM_005245405.1:c.40G>A | XP_005245462.1:p.Gly14Arg | |
| XM_005245406.2:c.40G>A | XP_005245463.1:p.Gly14Arg | |
| XM_011509847.1:c.40G>A | XP_011508149.1:p.Gly14Arg | |
| XM_011509848.1:c.40G>A | XP_011508150.1:p.Gly14Arg | |
| XM_011509849.1:c.40G>A | XP_011508151.1:p.Gly14Arg | |
| XM_011509850.1:c.40G>A | XP_011508152.1:p.Gly14Arg | |
| XM_005245406.3:c.40G>A | XP_005245463.1:p.Gly14Arg | |
| XM_017001999.1:c.-542G>A | XP_016857488.1:n.-542G>A | |
| XM_017002000.1:c.-542G>A | XP_016857489.1:n.-542G>A | |
| XM_024448791.1:c.-542G>A | XP_024304559.1:n.-542G>A | |
| NM_001025603.2:c.40G>A MANE Select | NP_001020774.1:p.Gly14Arg | |
| NM_000449.4:c.40G>A | NP_000440.1:p.Gly14Arg | |
| NM_001379412.1:c.40G>A | NP_001366341.1:p.Gly14Arg | |
| NM_001379413.1:c.40G>A | NP_001366342.1:p.Gly14Arg | |
| NM_001379414.1:c.40G>A | NP_001366343.1:p.Gly14Arg | |
| NM_001379415.1:c.40G>A | NP_001366344.1:p.Gly14Arg | |
| NM_001379416.1:c.40G>A | NP_001366345.1:p.Gly14Arg | |
| NM_001379417.1:c.40G>A | NP_001366346.1:p.Gly14Arg | |
| NM_001379418.1:c.40G>A | NP_001366347.1:p.Gly14Arg | |
| NM_001379419.1:c.40G>A | NP_001366348.1:p.Gly14Arg | |
| NM_001379420.1:c.40G>A | NP_001366349.1:p.Gly14Arg |