Linked Data
ClinVar Variation Id:
3163328
ClinVar RCV Id:
RCV004448711
dbSNP Id:
rs201674721
ExAC:
11:63065136 G / A
gnomAD v2:
11-63065136-G-A
gnomAD v3:
11-63297664-G-A
gnomAD v4:
11-63297664-G-A
COSMIC:
COSM3451228
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63297664G>A , CM000673.2:g.63297664G>A | GRCh38 |
| NC_000011.9:g.63065136G>A , CM000673.1:g.63065136G>A | GRCh37 |
| NC_000011.8:g.62821712G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525620.2:n.1980G>A | ||
| ENST00000682643.1:c.137G>A | ENSP00000506810.1:p.Arg46Gln | |
| ENST00000332793.11:c.767G>A MANE Select | ENSP00000327569.6:p.Arg256Gln | |
| ENST00000332793.10:c.767G>A | ENSP00000327569.6:p.Arg256Gln | |
| ENST00000525620.1:n.682G>A | ||
| ENST00000526800.1:c.351-1256G>A | ENSP00000433908.1:n.351-1256G>A | |
| ENST00000532724.5:c.351-1256G>A | ENSP00000433817.1:n.351-1256G>A | |
| ENST00000533483.5:c.611G>A | ENSP00000433048.1:p.Arg204Gln | |
| NM_001039752.3:c.767G>A | NP_001034841.3:p.Arg256Gln | |
| XM_011545016.1:c.767G>A | XP_011543318.1:p.Arg256Gln | |
| XM_011545017.1:c.611G>A | XP_011543319.1:p.Arg204Gln | |
| XM_011545018.1:c.368G>A | XP_011543320.1:p.Arg123Gln | |
| XM_011545019.1:c.611G>A | XP_011543321.1:p.Arg204Gln | |
| NR_134874.1:n.730G>A | ||
| XM_011545016.2:c.767G>A | XP_011543318.1:p.Arg256Gln | |
| XM_017017699.1:c.611G>A | XP_016873188.1:p.Arg204Gln | |
| XM_017017700.1:c.507-1256G>A | XP_016873189.1:n.507-1256G>A | |
| XM_017017701.1:c.767G>A | XP_016873190.1:p.Arg256Gln | |
| XM_017017702.1:c.767G>A | XP_016873191.1:p.Arg256Gln | |
| XM_017017704.1:c.507-1256G>A | XP_016873193.1:n.507-1256G>A | |
| NM_001039752.4:c.767G>A MANE Select | NP_001034841.3:p.Arg256Gln | |
| NR_134874.2:n.774G>A |