Linked Data
ClinVar Variation Id:
697409
ClinVar RCV Id:
RCV001271308
dbSNP Id:
rs768695630
ExAC:
11:2186563 G / A
gnomAD v2:
11-2186563-G-A
gnomAD v3:
11-2165333-G-A
gnomAD v4:
11-2165333-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2165333G>A , CM000673.2:g.2165333G>A | GRCh38 |
| NC_000011.9:g.2186563G>A , CM000673.1:g.2186563G>A | GRCh37 |
| NC_000011.8:g.2143139G>A | NCBI36 |
| NG_007114.1:g.862C>T | |
| NG_008128.1:g.11473C>T | |
| NG_050578.1:g.877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.1233C>T MANE Select | ENSP00000325951.4:p.Ala411= | |
| ENST00000324155.8:c.*922C>T | ENSP00000325831.3:n.*922C>T | |
| ENST00000333684.9:c.951C>T | ENSP00000328814.6:p.Ala317= | |
| ENST00000352909.7:c.1233C>T | ENSP00000325951.3:p.Ala411= | |
| ENST00000381175.5:c.1314C>T | ENSP00000370567.1:p.Ala438= | |
| ENST00000381178.5:c.1326C>T | ENSP00000370571.1:p.Ala442= | |
| NM_000360.3:c.1233C>T | NP_000351.2:p.Ala411= | |
| NM_199292.2:c.1326C>T | NP_954986.2:p.Ala442= | |
| NM_199293.2:c.1314C>T | NP_954987.2:p.Ala438= | |
| XM_011520335.1:c.1245C>T | XP_011518637.1:p.Ala415= | |
| XM_011520335.2:c.1245C>T | XP_011518637.1:p.Ala415= | |
| NM_000360.4:c.1233C>T MANE Select | NP_000351.2:p.Ala411= | |
| NM_199292.3:c.1326C>T | NP_954986.2:p.Ala442= | |
| NM_199293.3:c.1314C>T | NP_954987.2:p.Ala438= |