Linked Data
ClinVar Variation Id:
193031
dbSNP Id:
rs77311724
ExAC:
11:107992393 G / C
gnomAD v2:
11-107992393-G-C
gnomAD v3:
11-108121666-G-C
gnomAD v4:
11-108121666-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108121666G>C , CM000673.2:g.108121666G>C | GRCh38 |
| NC_000011.9:g.107992393G>C , CM000673.1:g.107992393G>C | GRCh37 |
| NC_000011.8:g.107497603G>C | NCBI36 |
| NG_009888.1:g.5136G>C | |
| NG_009888.2:g.9962G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.9:c.60G>C MANE Select | ENSP00000265838.4:p.Arg20= | |
| ENST00000672008.1:c.60G>C | ENSP00000500499.1:p.Arg20= | |
| ENST00000672031.1:c.60G>C | ENSP00000500463.1:p.Arg20= | |
| ENST00000672284.1:c.-199+4764G>C | ENSP00000500444.1:n.-199+4764G>C | |
| ENST00000672354.1:c.60G>C | ENSP00000500490.1:p.Arg20= | |
| ENST00000672367.1:c.60G>C | ENSP00000500209.1:p.Arg20= | |
| ENST00000672580.1:c.60G>C | ENSP00000500366.1:p.Arg20= | |
| ENST00000672907.1:c.60G>C | ENSP00000500928.1:p.Arg20= | |
| ENST00000673531.1:c.-305G>C | ENSP00000500163.1:n.-305G>C | |
| ENST00000265838.8:c.60G>C | ENSP00000265838.4:p.Arg20= | |
| ENST00000299355.10:c.60G>C | ENSP00000299355.6:p.Arg20= | |
| ENST00000524833.5:n.100G>C | ||
| ENST00000531813.5:c.60G>C | ENSP00000435965.1:p.Arg20= | |
| NM_000019.3:c.60G>C | NP_000010.1:p.Arg20= | |
| XM_017017681.1:c.-305G>C | XP_016873170.1:n.-305G>C | |
| XM_017017682.2:c.-218G>C | XP_016873171.1:n.-218G>C | |
| XM_017017683.2:c.-312G>C | XP_016873172.1:n.-312G>C | |
| XM_024448512.1:c.-199+4764G>C | XP_024304280.1:n.-199+4764G>C | |
| NM_000019.4:c.60G>C MANE Select | NP_000010.1:p.Arg20= | |
| NM_001386677.1:c.60G>C | NP_001373606.1:p.Arg20= | |
| NM_001386678.1:c.60G>C | NP_001373607.1:p.Arg20= | |
| NM_001386679.1:c.-218G>C | NP_001373608.1:n.-218G>C | |
| NM_001386681.1:c.-199+4764G>C | NP_001373610.1:n.-199+4764G>C | |
| NM_001386682.1:c.-416+4764G>C | NP_001373611.1:n.-416+4764G>C | |
| NM_001386685.1:c.-305G>C | NP_001373614.1:n.-305G>C | |
| NM_001386686.1:c.-310G>C | NP_001373615.1:n.-310G>C | |
| NR_170162.1:n.100G>C | ||
| NR_170163.1:n.100G>C |