Linked Data
dbSNP Id:
rs1358651837
gnomAD v2:
1-186649447-C-T
gnomAD v3:
1-186680315-C-T
gnomAD v4:
1-186680315-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186680315C>T , CM000663.2:g.186680315C>T | GRCh38 |
| NC_000001.10:g.186649447C>T , CM000663.1:g.186649447C>T | GRCh37 |
| NC_000001.9:g.184916070C>T | NCBI36 |
| NG_028206.2:g.5113G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.-25G>A MANE Select | ENSP00000356438.5:n.-25G>A | |
| ENST00000680451.1:c.-25G>A | ENSP00000506242.1:n.-25G>A | |
| ENST00000681605.1:c.-25G>A | ENSP00000504900.1:n.-25G>A | |
| ENST00000367468.9:c.-25G>A | ENSP00000356438.5:n.-25G>A | |
| ENST00000490885.6:n.109G>A | ||
| ENST00000559800.1:n.109G>A | ||
| NM_000963.3:c.-25G>A | NP_000954.1:n.-25G>A | |
| NM_000963.4:c.-25G>A MANE Select | NP_000954.1:n.-25G>A |