Linked Data
dbSNP Id:
rs370230896
ExAC:
1:171621768 G / A
gnomAD v2:
1-171621768-G-A
gnomAD v3:
1-171652628-G-A
gnomAD v4:
1-171652628-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652628G>A , CM000663.2:g.171652628G>A | GRCh38 |
| NC_000001.10:g.171621768G>A , CM000663.1:g.171621768G>A | GRCh37 |
| NC_000001.9:g.169888391G>A | NCBI36 |
| NG_008859.1:g.5006C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-17C>T MANE Select | ENSP00000037502.5:n.-17C>T | |
| ENST00000638471.1:c.-17C>T | ENSP00000491206.1:n.-17C>T | |
| ENST00000037502.10:c.-17C>T | ENSP00000037502.5:n.-17C>T | |
| ENST00000614688.1:c.-17C>T | ENSP00000478680.1:n.-17C>T | |
| NM_000261.1:c.-17C>T | NP_000252.1:n.-17C>T | |
| NM_000261.2:c.-17C>T MANE Select | NP_000252.1:n.-17C>T |