Linked Data
dbSNP Id:
rs112468388
gnomAD v2:
2-38302589-C-T
gnomAD v3:
2-38075446-C-T
gnomAD v4:
2-38075446-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075446C>T , CM000664.2:g.38075446C>T | GRCh38 |
| NC_000002.11:g.38302589C>T , CM000664.1:g.38302589C>T | GRCh37 |
| NC_000002.10:g.38156093C>T | NCBI36 |
| NG_008386.2:g.5656G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.-1-57G>A | ENSP00000478839.2:n.-1-57G>A | |
| ENST00000610745.5:c.-1-57G>A MANE Select | ENSP00000478561.1:n.-1-57G>A | |
| ENST00000490576.1:c.-1-57G>A | ENSP00000478839.1:n.-1-57G>A | |
| ENST00000494864.1:c.-70-4136G>A | ENSP00000479876.1:n.-70-4136G>A | |
| ENST00000610745.4:c.-1-57G>A | ENSP00000478561.1:n.-1-57G>A | |
| ENST00000613082.1:n.375+334G>A | ||
| ENST00000614273.1:c.-1-57G>A | ENSP00000483678.1:n.-1-57G>A | |
| NM_000104.3:c.-1-57G>A | NP_000095.2:n.-1-57G>A | |
| XM_011533236.1:c.60C>T | XP_011531538.1:p.Arg20= | |
| NM_000104.4:c.-1-57G>A MANE Select | NP_000095.2:n.-1-57G>A |