Linked Data
dbSNP Id:
rs770232863
ExAC:
1:115227007 G / T
gnomAD v2:
1-115227007-G-T
gnomAD v4:
1-114684386-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684386G>T , CM000663.2:g.114684386G>T | GRCh38 |
| NC_000001.10:g.115227007G>T , CM000663.1:g.115227007G>T | GRCh37 |
| NC_000001.9:g.115028530G>T | NCBI36 |
| NG_008012.1:g.16170C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.370-22C>A | ENSP00000358551.4:n.370-22C>A | |
| ENST00000520113.7:c.382-22C>A MANE Select | ENSP00000430075.3:n.382-22C>A | |
| ENST00000637080.1:c.385-22C>A | ENSP00000489753.1:n.385-22C>A | |
| ENST00000639077.1:n.47-22C>A | ||
| ENST00000369538.3:c.469-22C>A | ENSP00000358551.3:n.469-22C>A | |
| ENST00000485564.3:n.256-22C>A | ||
| ENST00000520113.6:c.481-22C>A | ENSP00000430075.2:n.481-22C>A | |
| NM_000036.2:c.481-22C>A | NP_000027.2:n.481-22C>A | |
| NM_001172626.1:c.469-22C>A | NP_001166097.1:n.469-22C>A | |
| NM_000036.3:c.382-22C>A MANE Select | NP_000027.3:n.382-22C>A | |
| NM_001172626.2:c.370-22C>A | NP_001166097.2:n.370-22C>A |