Linked Data
ClinVar Variation Id:
304073
dbSNP Id:
rs11826260
ExAC:
11:2187722 C / A
gnomAD v2:
11-2187722-C-A
gnomAD v3:
11-2166492-C-A
gnomAD v4:
11-2166492-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166492C>A , CM000673.2:g.2166492C>A | GRCh38 |
| NC_000011.9:g.2187722C>A , CM000673.1:g.2187722C>A | GRCh37 |
| NC_000011.8:g.2144298C>A | NCBI36 |
| NG_008128.1:g.10314G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.1035G>T MANE Select | ENSP00000325951.4:p.Ala345= | |
| ENST00000324155.8:c.*724G>T | ENSP00000325831.3:n.*724G>T | |
| ENST00000333684.9:c.753G>T | ENSP00000328814.6:p.Ala251= | |
| ENST00000352909.7:c.1035G>T | ENSP00000325951.3:p.Ala345= | |
| ENST00000381168.7:c.*755G>T | ENSP00000370560.3:n.*755G>T | |
| ENST00000381175.5:c.1116G>T | ENSP00000370567.1:p.Ala372= | |
| ENST00000381178.5:c.1128G>T | ENSP00000370571.1:p.Ala376= | |
| ENST00000412076.1:c.193G>T | ||
| ENST00000416223.5:c.329G>T | ||
| ENST00000461172.1:n.200G>T | ||
| ENST00000479437.5:n.584G>T | ||
| NM_000360.3:c.1035G>T | NP_000351.2:p.Ala345= | |
| NM_199292.2:c.1128G>T | NP_954986.2:p.Ala376= | |
| NM_199293.2:c.1116G>T | NP_954987.2:p.Ala372= | |
| XM_011520335.1:c.1047G>T | XP_011518637.1:p.Ala349= | |
| XM_011520335.2:c.1047G>T | XP_011518637.1:p.Ala349= | |
| NM_000360.4:c.1035G>T MANE Select | NP_000351.2:p.Ala345= | |
| NM_199292.3:c.1128G>T | NP_954986.2:p.Ala376= | |
| NM_199293.3:c.1116G>T | NP_954987.2:p.Ala372= |