Linked Data
ClinVar Variation Id:
206709
dbSNP Id:
rs200053119
ExAC:
4:77102169 G / A
gnomAD v2:
4-77102169-G-A
gnomAD v3:
4-76181016-G-A
gnomAD v4:
4-76181016-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76181016G>A , CM000666.2:g.76181016G>A | GRCh38 |
| NC_000004.11:g.77102169G>A , CM000666.1:g.77102169G>A | GRCh37 |
| NC_000004.10:g.77321193G>A | NCBI36 |
| NG_012054.1:g.37867C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.337C>T | ||
| ENST00000264896.8:c.361C>T MANE Select | ENSP00000264896.2:p.Arg121Ter | |
| ENST00000502908.2:n.614C>T | ||
| ENST00000509994.2:c.*164C>T | ENSP00000420988.1:n.*164C>T | |
| ENST00000638295.1:c.-114C>T | ENSP00000492288.1:n.-114C>T | |
| ENST00000638372.1:n.613C>T | ||
| ENST00000638603.1:c.361C>T | ENSP00000491728.1:p.Arg121Ter | |
| ENST00000638663.1:c.361C>T | ENSP00000491407.1:p.Arg121Ter | |
| ENST00000638680.1:n.694C>T | ||
| ENST00000639145.1:c.352C>T | ENSP00000492831.1:p.Arg118Ter | |
| ENST00000639300.1:c.361C>T | ENSP00000492840.1:p.Arg121Ter | |
| ENST00000639324.1:n.460C>T | ||
| ENST00000639715.1:c.326C>T | ||
| ENST00000639738.1:c.275+14691C>T | ENSP00000491792.1:n.275+14691C>T | |
| ENST00000640341.1:c.361C>T | ENSP00000492714.1:p.Arg121Ter | |
| ENST00000640634.1:c.338C>T | ||
| ENST00000640640.1:c.361C>T | ENSP00000492246.1:p.Arg121Ter | |
| ENST00000640916.1:n.289C>T | ||
| ENST00000640957.1:c.361C>T | ENSP00000492004.1:p.Arg121Ter | |
| ENST00000264896.6:c.361C>T | ENSP00000264896.2:p.Arg121Ter | |
| ENST00000452464.6:c.276-5106C>T | ENSP00000399154.2:n.276-5106C>T | |
| ENST00000502908.1:n.225C>T | ||
| ENST00000509994.1:c.*164C>T | ENSP00000420988.1:n.*164C>T | |
| NM_001204255.1:c.276-5106C>T | NP_001191184.1:n.276-5106C>T | |
| NM_005506.3:c.361C>T | NP_005497.1:p.Arg121Ter | |
| NM_005506.4:c.361C>T MANE Select | NP_005497.1:p.Arg121Ter | |
| NM_001204255.2:c.276-5106C>T | NP_001191184.1:n.276-5106C>T |