Linked Data
ClinVar Variation Id:
166974
dbSNP Id:
rs2617266
ExAC:
2:38302544 G / A
gnomAD v2:
2-38302544-G-A
gnomAD v3:
2-38075401-G-A
gnomAD v4:
2-38075401-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075401G>A , CM000664.2:g.38075401G>A | GRCh38 |
| NC_000002.11:g.38302544G>A , CM000664.1:g.38302544G>A | GRCh37 |
| NC_000002.10:g.38156048G>A | NCBI36 |
| NG_008386.2:g.5701C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490576.2:c.-1-12C>T | ENSP00000478839.2:n.-1-12C>T | |
| ENST00000610745.5:c.-1-12C>T MANE Select | ENSP00000478561.1:n.-1-12C>T | |
| ENST00000490576.1:c.-1-12C>T | ENSP00000478839.1:n.-1-12C>T | |
| ENST00000494864.1:c.-70-4091C>T | ENSP00000479876.1:n.-70-4091C>T | |
| ENST00000610745.4:c.-1-12C>T | ENSP00000478561.1:n.-1-12C>T | |
| ENST00000613082.1:n.375+379C>T | ||
| ENST00000614273.1:c.-1-12C>T | ENSP00000483678.1:n.-1-12C>T | |
| NM_000104.3:c.-1-12C>T | NP_000095.2:n.-1-12C>T | |
| XM_011533236.1:c.15G>A | XP_011531538.1:p.Glu5= | |
| NM_000104.4:c.-1-12C>T MANE Select | NP_000095.2:n.-1-12C>T |