Linked Data
ClinVar Variation Id:
4886
dbSNP Id:
rs104894194
gnomAD v2:
11-67250669-C-T
gnomAD v3:
11-67483198-C-T
gnomAD v4:
11-67483198-C-T
PubMed:
PMID:16728643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67483198C>T , CM000673.2:g.67483198C>T | GRCh38 |
| NC_000011.9:g.67250669C>T , CM000673.1:g.67250669C>T | GRCh37 |
| NC_000011.8:g.67007245C>T | NCBI36 |
| NG_008969.1:g.5165C>T , LRG_460:g.5165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.17C>T | ||
| ENST00000528641.7:c.40C>T | ENSP00000434982.3:p.Gln14Ter | |
| ENST00000682324.1:c.40C>T | ENSP00000508017.1:p.Gln14Ter | |
| ENST00000682659.1:c.40C>T | ENSP00000507351.1:p.Gln14Ter | |
| ENST00000682699.1:c.40C>T | ENSP00000507935.1:p.Gln14Ter | |
| ENST00000683237.1:c.40C>T | ENSP00000507343.1:p.Gln14Ter | |
| ENST00000684006.1:c.40C>T | ENSP00000507269.1:p.Gln14Ter | |
| ENST00000684657.1:c.40C>T | ENSP00000507961.1:p.Gln14Ter | |
| ENST00000279146.8:c.40C>T MANE Select | ENSP00000279146.3:p.Gln14Ter | |
| ENST00000279146.7:c.40C>T | ENSP00000279146.3:p.Gln14Ter | |
| ENST00000528641.6:c.40C>T | ENSP00000434982.2:p.Gln14Ter | |
| ENST00000529797.1:n.150C>T | ||
| NM_001302960.1:c.40C>T | NP_001289889.1:p.Gln14Ter | |
| NM_003977.3:c.40C>T | NP_003968.3:p.Gln14Ter | |
| XM_024448761.1:c.40C>T | XP_024304529.1:p.Gln14Ter | |
| NM_003977.4:c.40C>T MANE Select | NP_003968.3:p.Gln14Ter | |
| NM_001302960.2:c.40C>T | NP_001289889.1:p.Gln14Ter |