Linked Data
ClinVar Variation Id:
167744
dbSNP Id:
rs727504181
gnomAD v2:
1-154145403-G-A
gnomAD v4:
1-154172927-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154172927G>A , CM000663.2:g.154172927G>A | GRCh38 |
| NC_000001.10:g.154145403G>A , CM000663.1:g.154145403G>A | GRCh37 |
| NC_000001.9:g.152412027G>A | NCBI36 |
| NG_008621.1:g.24207C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611659.5:c.436C>T | ENSP00000480520.1:p.Arg146Ter | |
| ENST00000312970.13:n.403C>T | ||
| ENST00000323144.12:c.436C>T | ENSP00000357518.4:p.Arg146Ter | |
| ENST00000328159.9:c.436C>T | ENSP00000357520.1:p.Arg146Ter | |
| ENST00000341372.8:c.*152C>T | ENSP00000339378.4:n.*152C>T | |
| ENST00000341485.10:c.436C>T | ENSP00000341653.6:p.Arg146Ter | |
| ENST00000368530.7:c.547C>T | ENSP00000357516.3:p.Arg183Ter | |
| ENST00000368533.8:c.436C>T | ENSP00000357521.3:p.Arg146Ter | |
| ENST00000651641.1:c.547C>T MANE Select | ENSP00000498577.1:p.Arg183Ter | |
| ENST00000651644.1:c.547C>T | ENSP00000498648.1:p.Arg183Ter | |
| ENST00000651873.1:c.457C>T | ||
| ENST00000271850.11:c.547C>T | ENSP00000271850.7:p.Arg183Ter | |
| ENST00000302206.9:c.166C>T | ENSP00000307712.5:p.Arg56Ter | |
| ENST00000312970.12:n.326C>T | ||
| ENST00000323144.11:c.436C>T | ENSP00000357518.4:p.Arg146Ter | |
| ENST00000328159.8:c.436C>T | ENSP00000357520.1:p.Arg146Ter | |
| ENST00000330188.13:c.436C>T | ENSP00000339035.7:p.Arg146Ter | |
| ENST00000341372.7:c.361C>T | ENSP00000339378.3:p.Arg121Ter | |
| ENST00000341485.9:c.388C>T | ENSP00000341653.5:p.Arg130Ter | |
| ENST00000368527.7:n.512C>T | ||
| ENST00000368530.6:c.547C>T | ENSP00000357516.2:p.Arg183Ter | |
| ENST00000368531.6:c.436C>T | ENSP00000357517.2:p.Arg146Ter | |
| ENST00000368533.7:c.436C>T | ENSP00000357521.3:p.Arg146Ter | |
| ENST00000469717.5:n.330C>T | ||
| ENST00000473036.2:n.491C>T | ||
| ENST00000505010.5:n.298C>T | ||
| ENST00000509409.5:c.*152C>T | ENSP00000426521.1:n.*152C>T | |
| ENST00000509601.1:c.267-836C>T | ENSP00000422207.1:n.267-836C>T | |
| ENST00000611659.4:c.436C>T | ENSP00000480520.1:p.Arg146Ter | |
| NM_001043351.1:c.436C>T | NP_001036816.1:p.Arg146Ter | |
| NM_001043352.1:c.436C>T | NP_001036817.1:p.Arg146Ter | |
| NM_001043353.1:c.436C>T | NP_001036818.1:p.Arg146Ter | |
| NM_001278188.1:c.238C>T | NP_001265117.1:p.Arg80Ter | |
| NM_001278189.1:c.436C>T | NP_001265118.1:p.Arg146Ter | |
| NM_001278190.1:c.436C>T | NP_001265119.1:p.Arg146Ter | |
| NM_001278191.1:c.166C>T | NP_001265120.1:p.Arg56Ter | |
| NM_152263.3:c.547C>T | NP_689476.2:p.Arg183Ter | |
| NM_153649.3:c.436C>T | NP_705935.1:p.Arg146Ter | |
| NR_103461.1:n.566C>T | ||
| XM_006711515.1:c.547C>T | XP_006711578.1:p.Arg183Ter | |
| XM_006711517.1:c.547C>T | XP_006711580.1:p.Arg183Ter | |
| XM_006711518.1:c.547C>T | XP_006711581.1:p.Arg183Ter | |
| XM_006711519.1:c.547C>T | XP_006711582.1:p.Arg183Ter | |
| XM_006711520.1:c.547C>T | XP_006711583.1:p.Arg183Ter | |
| XM_006711521.1:c.547C>T | XP_006711584.1:p.Arg183Ter | |
| XM_006711522.2:c.436C>T | XP_006711585.1:p.Arg146Ter | |
| XM_006711523.2:c.436C>T | XP_006711586.1:p.Arg146Ter | |
| XM_011509950.1:c.547C>T | XP_011508252.1:p.Arg183Ter | |
| XM_011509951.1:c.547C>T | XP_011508253.1:p.Arg183Ter | |
| XM_011509952.1:c.436C>T | XP_011508254.1:p.Arg146Ter | |
| XM_011509953.1:c.436C>T | XP_011508255.1:p.Arg146Ter | |
| XM_011509954.1:c.436C>T | XP_011508256.1:p.Arg146Ter | |
| NM_001349679.1:c.436C>T | NP_001336608.1:p.Arg146Ter | |
| NM_001364679.1:c.547C>T | NP_001351608.1:p.Arg183Ter | |
| NM_001364680.1:c.547C>T | NP_001351609.1:p.Arg183Ter | |
| NM_001364681.1:c.547C>T | NP_001351610.1:p.Arg183Ter | |
| NM_001364682.1:c.547C>T | NP_001351611.1:p.Arg183Ter | |
| NM_001364683.1:c.436C>T | NP_001351612.1:p.Arg146Ter | |
| NM_152263.4:c.547C>T MANE Select | NP_689476.2:p.Arg183Ter | |
| NM_001043351.2:c.436C>T | NP_001036816.1:p.Arg146Ter | |
| NM_001043352.2:c.436C>T | NP_001036817.1:p.Arg146Ter | |
| NM_001043353.2:c.436C>T | NP_001036818.1:p.Arg146Ter | |
| NM_001278188.2:c.238C>T | NP_001265117.1:p.Arg80Ter | |
| NM_001278189.2:c.436C>T | NP_001265118.1:p.Arg146Ter | |
| NM_001278191.2:c.166C>T | NP_001265120.1:p.Arg56Ter | |
| NM_001349679.2:c.436C>T | NP_001336608.1:p.Arg146Ter | |
| NM_001364679.2:c.547C>T | NP_001351608.1:p.Arg183Ter | |
| NM_001364680.2:c.547C>T | NP_001351609.1:p.Arg183Ter | |
| NM_001364681.2:c.547C>T | NP_001351610.1:p.Arg183Ter | |
| NM_153649.4:c.436C>T | NP_705935.1:p.Arg146Ter | |
| NR_103461.2:n.535C>T | ||
| NM_001278190.2:c.436C>T | NP_001265119.1:p.Arg146Ter |