Linked Data
ClinVar Variation Id:
259919
dbSNP Id:
rs115683875
ExAC:
1:154245266 C / T
gnomAD v2:
1-154245266-C-T
gnomAD v3:
1-154272790-C-T
gnomAD v4:
1-154272790-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154272790C>T , CM000663.2:g.154272790C>T | GRCh38 |
| NC_000001.10:g.154245266C>T , CM000663.1:g.154245266C>T | GRCh37 |
| NC_000001.9:g.152511890C>T | NCBI36 |
| NG_007369.1:g.5228C>T , LRG_64:g.5228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435087.2:c.53+14C>T | ENSP00000394920.2:n.53+14C>T | |
| ENST00000447768.7:c.53+14C>T | ENSP00000403848.2:n.53+14C>T | |
| ENST00000459914.2:n.154+14C>T | ||
| ENST00000471326.6:n.184C>T | ||
| ENST00000477780.3:n.140+14C>T | ||
| ENST00000483970.7:c.53+14C>T | ENSP00000435088.1:n.53+14C>T | |
| ENST00000531435.6:n.223+14C>T | ||
| ENST00000696929.1:c.53+14C>T | ENSP00000512978.1:n.53+14C>T | |
| ENST00000696931.1:n.154+14C>T | ||
| ENST00000696932.1:c.53+14C>T | ENSP00000512979.1:n.53+14C>T | |
| ENST00000696933.1:c.53+14C>T | ENSP00000512980.1:n.53+14C>T | |
| ENST00000696938.1:c.53+14C>T | ENSP00000512983.1:n.53+14C>T | |
| ENST00000696941.1:c.-3+14C>T | ENSP00000512986.1:n.-3+14C>T | |
| ENST00000696944.1:c.-116+14C>T | ENSP00000512989.1:n.-116+14C>T | |
| ENST00000696945.1:c.-128+14C>T | ENSP00000512990.1:n.-128+14C>T | |
| ENST00000696965.1:c.-3+8C>T | ENSP00000513004.1:n.-3+8C>T | |
| ENST00000696966.1:c.-128+14C>T | ENSP00000513005.1:n.-128+14C>T | |
| ENST00000697592.1:c.-26+8C>T | ENSP00000513356.1:n.-26+8C>T | |
| ENST00000697830.1:c.-26+87C>T | ENSP00000513452.1:n.-26+87C>T | |
| ENST00000328703.12:c.53+14C>T MANE Select | ENSP00000329002.7:n.53+14C>T | |
| ENST00000328703.11:c.53+14C>T | ENSP00000329002.7:n.53+14C>T | |
| ENST00000435087.1:c.53+14C>T | ENSP00000394920.1:n.53+14C>T | |
| ENST00000447768.6:c.53+14C>T | ENSP00000403848.2:n.53+14C>T | |
| ENST00000457918.6:c.53+14C>T | ENSP00000411448.2:n.53+14C>T | |
| ENST00000477780.2:n.140+14C>T | ||
| ENST00000483970.6:c.53+14C>T | ENSP00000435088.1:n.53+14C>T | |
| ENST00000531435.5:n.148+14C>T | ||
| ENST00000532105.1:c.-69+14C>T | ENSP00000433951.1:n.-69+14C>T | |
| NM_001018837.1:c.53+14C>T | NP_001018238.1:n.53+14C>T | |
| NM_006118.3:c.53+14C>T , LRG_64t1:c.53+14C>T | NP_006109.2:n.53+14C>T | |
| NM_001018837.2:c.53+14C>T | NP_001018238.1:n.53+14C>T | |
| NM_006118.4:c.53+14C>T MANE Select | NP_006109.2:n.53+14C>T |