Linked Data
dbSNP Id:
rs763264028
ExAC:
11:18428820 C / T
gnomAD v2:
11-18428820-C-T
gnomAD v4:
11-18407273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18407273C>T , CM000673.2:g.18407273C>T | GRCh38 |
| NC_000011.9:g.18428820C>T , CM000673.1:g.18428820C>T | GRCh37 |
| NC_000011.8:g.18385396C>T | NCBI36 |
| NG_008185.1:g.17839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.991C>T MANE Select | ENSP00000395337.3:p.Gln331Ter | |
| ENST00000227157.8:c.*141C>T | ENSP00000227157.4:n.*141C>T | |
| ENST00000375710.7:n.1858C>T | ||
| ENST00000379412.9:c.991C>T | ENSP00000368722.5:p.Gln331Ter | |
| ENST00000396222.6:c.722C>T | ENSP00000379524.2:p.Ala241Val | |
| ENST00000422447.7:c.991C>T | ENSP00000395337.3:p.Gln331Ter | |
| ENST00000430553.6:c.817C>T | ENSP00000406172.2:p.Gln273Ter | |
| ENST00000538451.1:n.878C>T | ||
| ENST00000540430.5:c.1078C>T | ENSP00000445175.1:p.Gln360Ter | |
| ENST00000542179.1:c.991C>T | ENSP00000445331.1:p.Gln331Ter | |
| ENST00000545215.5:c.*735C>T | ENSP00000442637.1:n.*735C>T | |
| NM_001135239.1:c.817C>T | NP_001128711.1:p.Gln273Ter | |
| NM_001165414.1:c.1078C>T | NP_001158886.1:p.Gln360Ter | |
| NM_001165415.1:c.722C>T | NP_001158887.1:p.Ala241Val | |
| NM_001165416.1:c.*141C>T | NP_001158888.1:n.*141C>T | |
| NM_005566.3:c.991C>T | NP_005557.1:p.Gln331Ter | |
| NR_028500.1:n.1145C>T | ||
| NM_005566.4:c.991C>T MANE Select | NP_005557.1:p.Gln331Ter | |
| NM_001165415.2:c.722C>T | NP_001158887.1:p.Ala241Val | |
| NM_001135239.2:c.817C>T | NP_001128711.1:p.Gln273Ter | |
| NM_001165414.2:c.1078C>T | NP_001158886.1:p.Gln360Ter | |
| NM_001165416.2:c.*141C>T | NP_001158888.1:n.*141C>T | |
| NR_028500.2:n.971C>T |