Linked Data
ClinVar Variation Id:
2679202
ClinVar RCV Id:
RCV003474117
dbSNP Id:
rs562363231
gnomAD v3:
11-2167869-C-A
gnomAD v4:
11-2167869-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2167869C>A , CM000673.2:g.2167869C>A | GRCh38 |
| NC_000011.9:g.2189099C>A , CM000673.1:g.2189099C>A | GRCh37 |
| NC_000011.8:g.2145675C>A | NCBI36 |
| NG_008128.1:g.8937G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.641G>T MANE Select | ENSP00000325951.4:p.Arg214Met | |
| ENST00000324155.8:c.*330G>T | ENSP00000325831.3:n.*330G>T | |
| ENST00000333684.9:c.641G>T | ENSP00000328814.6:p.Arg214Met | |
| ENST00000352909.7:c.641G>T | ENSP00000325951.3:p.Arg214Met | |
| ENST00000381168.7:c.*330G>T | ENSP00000370560.3:n.*330G>T | |
| ENST00000381175.5:c.722G>T | ENSP00000370567.1:p.Arg241Met | |
| ENST00000381178.5:c.734G>T | ENSP00000370571.1:p.Arg245Met | |
| ENST00000412076.1:c.81G>T | ||
| ENST00000416223.5:c.81G>T | ||
| ENST00000469226.1:n.390G>T | ||
| NM_000360.3:c.641G>T | NP_000351.2:p.Arg214Met | |
| NM_199292.2:c.734G>T | NP_954986.2:p.Arg245Met | |
| NM_199293.2:c.722G>T | NP_954987.2:p.Arg241Met | |
| XM_011520335.1:c.653G>T | XP_011518637.1:p.Arg218Met | |
| XM_011520335.2:c.653G>T | XP_011518637.1:p.Arg218Met | |
| NM_000360.4:c.641G>T MANE Select | NP_000351.2:p.Arg214Met | |
| NM_199292.3:c.734G>T | NP_954986.2:p.Arg245Met | |
| NM_199293.3:c.722G>T | NP_954987.2:p.Arg241Met |