Linked Data
dbSNP Id:
rs1292188700
gnomAD v2:
4-6292905-A-T
gnomAD v3:
4-6291178-A-T
gnomAD v4:
4-6291178-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291178A>T , CM000666.2:g.6291178A>T | GRCh38 |
| NC_000004.11:g.6292905A>T , CM000666.1:g.6292905A>T | GRCh37 |
| NC_000004.10:g.6343806A>T | NCBI36 |
| NG_011700.1:g.26329A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.461-19A>T | ENSP00000507852.1:n.461-19A>T | |
| ENST00000683395.1:c.451-19A>T | ||
| ENST00000684087.1:c.461-19A>T | ENSP00000506978.1:n.461-19A>T | |
| ENST00000684700.1:c.461-19A>T | ENSP00000507806.1:n.461-19A>T | |
| ENST00000506362.2:c.212-19A>T | ENSP00000424103.2:n.212-19A>T | |
| ENST00000673642.1:c.260-19A>T | ENSP00000501242.1:n.260-19A>T | |
| ENST00000673991.1:c.461-19A>T | ENSP00000501033.1:n.461-19A>T | |
| ENST00000674051.1:c.335-19A>T | ENSP00000501083.1:n.335-19A>T | |
| ENST00000226760.5:c.461-19A>T MANE Select | ENSP00000226760.1:n.461-19A>T | |
| ENST00000503569.5:c.461-19A>T | ENSP00000423337.1:n.461-19A>T | |
| ENST00000506362.1:c.58-19A>T | ||
| ENST00000507765.1:n.646-19A>T | ||
| NM_001145853.1:c.461-19A>T | NP_001139325.1:n.461-19A>T | |
| NM_006005.3:c.461-19A>T MANE Select | NP_005996.2:n.461-19A>T | |
| XM_017008586.1:c.470-19A>T | XP_016864075.1:n.470-19A>T |