Linked Data
dbSNP Id:
rs780507661
ExAC:
2:27535309 C / T
gnomAD v2:
2-27535309-C-T
gnomAD v4:
2-27312441-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312441C>T , CM000664.2:g.27312441C>T | GRCh38 |
| NC_000002.11:g.27535309C>T , CM000664.1:g.27535309C>T | GRCh37 |
| NC_000002.10:g.27388813C>T | NCBI36 |
| NG_008075.1:g.15123G>A | |
| NG_033055.1:g.822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.375+53G>A MANE Select | ENSP00000369383.1:n.375+53G>A | |
| ENST00000233545.6:c.375+53G>A | ENSP00000233545.2:n.375+53G>A | |
| ENST00000357186.10:c.207+53G>A | ENSP00000349713.6:n.207+53G>A | |
| ENST00000380044.5:c.375+53G>A | ENSP00000369383.1:n.375+53G>A | |
| ENST00000402310.5:c.375+53G>A | ENSP00000383955.1:n.375+53G>A | |
| ENST00000402722.5:c.*40+53G>A | ENSP00000386000.1:n.*40+53G>A | |
| ENST00000403262.6:c.375+53G>A | ENSP00000385671.1:n.375+53G>A | |
| ENST00000405076.5:c.187-195G>A | ENSP00000385175.1:n.187-195G>A | |
| ENST00000405983.5:c.420+53G>A | ENSP00000384586.1:n.420+53G>A | |
| ENST00000415514.5:c.*176+53G>A | ENSP00000388043.1:n.*176+53G>A | |
| ENST00000426513.6:c.*40+53G>A | ENSP00000403824.2:n.*40+53G>A | |
| ENST00000428910.5:c.297+53G>A | ENSP00000405235.1:n.297+53G>A | |
| ENST00000430991.5:c.210-195G>A | ||
| ENST00000475085.1:n.403+53G>A | ||
| ENST00000616446.1:n.405G>A | ||
| ENST00000616707.1:n.947G>A | ||
| ENST00000617583.4:n.454G>A | ||
| ENST00000620797.4:n.13G>A | ||
| ENST00000621183.4:n.484G>A | ||
| ENST00000621470.4:n.444G>A | ||
| ENST00000622003.4:n.601G>A | ||
| NM_002437.4:c.375+53G>A | NP_002428.1:n.375+53G>A | |
| XM_005264326.2:c.375+53G>A | XP_005264383.1:n.375+53G>A | |
| XM_005264327.2:c.216+53G>A | XP_005264384.1:n.216+53G>A | |
| XM_006712021.2:c.327+53G>A | XP_006712084.1:n.327+53G>A | |
| XM_005264326.4:c.375+53G>A | XP_005264383.1:n.375+53G>A | |
| XM_006712021.3:c.327+53G>A | XP_006712084.1:n.327+53G>A | |
| XM_017004150.1:c.357+53G>A | XP_016859639.1:n.357+53G>A | |
| XM_017004151.1:c.327+53G>A | XP_016859640.1:n.327+53G>A | |
| XM_017004152.1:c.216+53G>A | XP_016859641.1:n.216+53G>A | |
| XM_024452913.1:c.327+53G>A | XP_024308681.1:n.327+53G>A | |
| NM_002437.5:c.375+53G>A MANE Select | NP_002428.1:n.375+53G>A |