Linked Data
dbSNP Id:
rs946581513
gnomAD v2:
11-18428901-C-T
gnomAD v3:
11-18407354-C-T
gnomAD v4:
11-18407354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18407354C>T , CM000673.2:g.18407354C>T | GRCh38 |
| NC_000011.9:g.18428901C>T , CM000673.1:g.18428901C>T | GRCh37 |
| NC_000011.8:g.18385477C>T | NCBI36 |
| NG_008185.1:g.17920C>T | |
| NG_011816.1:g.49C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.*73C>T MANE Select | ENSP00000395337.3:n.*73C>T | |
| ENST00000227157.8:c.*222C>T | ENSP00000227157.4:n.*222C>T | |
| ENST00000375710.7:n.1939C>T | ||
| ENST00000379412.9:c.*73C>T | ENSP00000368722.5:n.*73C>T | |
| ENST00000396222.6:c.803C>T | ENSP00000379524.2:p.Pro268Leu | |
| ENST00000422447.7:c.*73C>T | ENSP00000395337.3:n.*73C>T | |
| ENST00000430553.6:c.*73C>T | ENSP00000406172.2:n.*73C>T | |
| ENST00000538451.1:n.959C>T | ||
| ENST00000540430.5:c.*73C>T | ENSP00000445175.1:n.*73C>T | |
| ENST00000545215.5:c.*816C>T | ENSP00000442637.1:n.*816C>T | |
| NM_001135239.1:c.*73C>T | NP_001128711.1:n.*73C>T | |
| NM_001165414.1:c.*73C>T | NP_001158886.1:n.*73C>T | |
| NM_001165415.1:c.803C>T | NP_001158887.1:p.Pro268Leu | |
| NM_001165416.1:c.*222C>T | NP_001158888.1:n.*222C>T | |
| NM_005566.3:c.*73C>T | NP_005557.1:n.*73C>T | |
| NR_028500.1:n.1226C>T | ||
| NM_005566.4:c.*73C>T MANE Select | NP_005557.1:n.*73C>T | |
| NM_001165415.2:c.803C>T | NP_001158887.1:p.Pro268Leu | |
| NM_001135239.2:c.*73C>T | NP_001128711.1:n.*73C>T | |
| NM_001165414.2:c.*73C>T | NP_001158886.1:n.*73C>T | |
| NM_001165416.2:c.*222C>T | NP_001158888.1:n.*222C>T | |
| NR_028500.2:n.1052C>T |