Linked Data
ClinVar Variation Id:
313924
ClinVar RCV Id:
RCV000314561
RCV000513295
RCV000517889
RCV001079194
RCV001848652
RCV002227471
RCV003930346
dbSNP Id:
rs147919567
ExAC:
14:68274324 C / T
gnomAD v2:
14-68274324-C-T
gnomAD v3:
14-67807607-C-T
gnomAD v4:
14-67807607-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67807607C>T , CM000676.2:g.67807607C>T | GRCh38 |
| NC_000014.8:g.68274324C>T , CM000676.1:g.68274324C>T | GRCh37 |
| NC_000014.7:g.67344077C>T | NCBI36 |
| NG_011836.1:g.13983G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.677G>A MANE Select | ENSP00000251119.5:p.Arg226His | |
| ENST00000676512.1:c.677G>A | ENSP00000504552.1:p.Arg226His | |
| ENST00000676620.1:c.677G>A | ENSP00000504587.1:p.Arg226His | |
| ENST00000677026.1:c.677G>A | ENSP00000503710.1:p.Arg226His | |
| ENST00000678382.1:c.677G>A | ENSP00000504130.1:p.Arg226His | |
| ENST00000678386.1:c.677G>A | ENSP00000503677.1:p.Arg226His | |
| ENST00000347230.8:c.677G>A | ENSP00000251119.5:p.Arg226His | |
| ENST00000554523.5:n.814G>A | ||
| ENST00000554557.5:c.677G>A | ENSP00000450431.1:p.Arg226His | |
| ENST00000555452.1:c.677G>A | ENSP00000450603.1:p.Arg226His | |
| ENST00000557366.5:n.812G>A | ||
| ENST00000557407.1:n.812G>A | ||
| NM_015346.3:c.677G>A | NP_056161.2:p.Arg226His | |
| XM_006720093.2:c.677G>A | XP_006720156.1:p.Arg226His | |
| XM_011536606.1:c.-744G>A | XP_011534908.1:n.-744G>A | |
| XM_011536609.1:c.677G>A | XP_011534911.1:p.Arg226His | |
| XM_011536609.2:c.677G>A | XP_011534911.1:p.Arg226His | |
| XM_017021124.1:c.677G>A | XP_016876613.1:p.Arg226His | |
| XM_017021125.1:c.677G>A | XP_016876614.1:p.Arg226His | |
| XM_017021126.1:c.-744G>A | XP_016876615.1:n.-744G>A | |
| NM_015346.4:c.677G>A MANE Select | NP_056161.2:p.Arg226His |