Linked Data
ClinVar Variation Id:
1484495
ClinVar RCV Id:
RCV003891327
dbSNP Id:
rs1767927068
gnomAD v4:
5-177604447-G-C
COSMIC:
COSM4347222
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604447G>C , CM000667.2:g.177604447G>C | GRCh38 |
| NC_000005.9:g.177031448G>C , CM000667.1:g.177031448G>C | GRCh37 |
| NC_000005.8:g.176964054G>C | NCBI36 |
| NG_015977.1:g.9330G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.319G>C MANE Select | ENSP00000029410.5:p.Glu107Gln | |
| ENST00000029410.9:c.319G>C | ENSP00000029410.5:p.Glu107Gln | |
| ENST00000502420.1:n.298G>C | ||
| ENST00000505433.5:c.319G>C | ENSP00000425591.1:p.Glu107Gln | |
| ENST00000505468.1:c.-24G>C | ENSP00000420886.1:n.-24G>C | |
| ENST00000507061.1:c.136G>C | ENSP00000423868.1:p.Glu46Gln | |
| ENST00000510761.1:c.-24G>C | ENSP00000423438.1:n.-24G>C | |
| NM_007255.2:c.319G>C | NP_009186.1:p.Glu107Gln | |
| XM_005265805.2:c.-24G>C | XP_005265862.1:n.-24G>C | |
| XM_006714816.2:c.-181G>C | XP_006714879.1:n.-181G>C | |
| XM_011534421.1:c.-24G>C | XP_011532723.1:n.-24G>C | |
| XM_006714816.4:c.-181G>C | XP_006714879.1:n.-181G>C | |
| XM_017008999.2:c.-24G>C | XP_016864488.1:n.-24G>C | |
| NM_007255.3:c.319G>C MANE Select | NP_009186.1:p.Glu107Gln |