Linked Data
dbSNP Id:
rs915625036
gnomAD v2:
2-48066533-T-A
gnomAD v3:
2-47839394-T-A
gnomAD v4:
2-47839394-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47839394T>A , CM000664.2:g.47839394T>A | GRCh38 |
| NC_000002.11:g.48066533T>A , CM000664.1:g.48066533T>A | GRCh37 |
| NC_000002.10:g.47920037T>A | NCBI36 |
| NG_008397.1:g.71282A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681999.1:n.319+25A>T | ||
| ENST00000682451.1:n.291+25A>T | ||
| ENST00000682975.1:n.337+25A>T | ||
| ENST00000683894.1:c.190+25A>T | ENSP00000507789.1:n.190+25A>T | |
| ENST00000684085.1:n.319+25A>T | ||
| ENST00000684712.1:n.550+25A>T | ||
| ENST00000403359.8:c.442+25A>T MANE Select | ENSP00000384823.4:n.442+25A>T | |
| ENST00000316377.8:c.208+25A>T | ENSP00000323822.5:n.208+25A>T | |
| ENST00000402508.5:c.190+25A>T | ENSP00000385398.1:n.190+25A>T | |
| ENST00000403359.7:c.442+25A>T | ENSP00000384823.3:n.442+25A>T | |
| ENST00000424163.2:c.190+25A>T | ENSP00000392272.1:n.190+25A>T | |
| ENST00000480038.1:n.405+25A>T | ||
| ENST00000492225.5:n.290+25A>T | ||
| NM_001190274.1:c.442+25A>T | NP_001177203.1:n.442+25A>T | |
| NM_025133.4:c.190+25A>T | NP_079409.3:n.190+25A>T | |
| XM_005264572.3:c.442+25A>T | XP_005264629.1:n.442+25A>T | |
| XM_005264573.3:c.442+25A>T | XP_005264630.1:n.442+25A>T | |
| XM_005264572.5:c.442+25A>T | XP_005264629.1:n.442+25A>T | |
| XM_005264573.5:c.442+25A>T | XP_005264630.1:n.442+25A>T | |
| XM_017005015.1:c.442+25A>T | XP_016860504.1:n.442+25A>T | |
| XM_017005016.2:c.190+25A>T | XP_016860505.1:n.190+25A>T | |
| XM_017005017.1:c.190+25A>T | XP_016860506.1:n.190+25A>T | |
| NM_001190274.2:c.442+25A>T MANE Select | NP_001177203.1:n.442+25A>T | |
| NM_001374325.1:c.190+25A>T | NP_001361254.1:n.190+25A>T |