Linked Data
dbSNP Id:
rs150760181
gnomAD v2:
11-68701057-G-A
gnomAD v3:
11-68933589-G-A
gnomAD v4:
11-68933589-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933589G>A , CM000673.2:g.68933589G>A | GRCh38 |
| NC_000011.9:g.68701057G>A , CM000673.1:g.68701057G>A | GRCh37 |
| NC_000011.8:g.68457633G>A | NCBI36 |
| NG_007976.1:g.34739G>A , LRG_250:g.34739G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1418+108G>A MANE Select | ENSP00000255078.4:n.1418+108G>A | |
| ENST00000674955.1:c.*135+108G>A | ENSP00000502463.1:n.*135+108G>A | |
| ENST00000675118.1:c.906+108G>A | ||
| ENST00000675205.1:n.183+108G>A | ||
| ENST00000675615.1:c.1418+108G>A | ENSP00000502413.1:n.1418+108G>A | |
| ENST00000675648.1:n.793+108G>A | ||
| ENST00000675997.1:n.113-875G>A | ||
| ENST00000676173.1:n.2163+108G>A | ||
| ENST00000676228.1:c.*741+108G>A | ENSP00000502375.1:n.*741+108G>A | |
| ENST00000255078.7:c.1418+108G>A | ENSP00000255078.3:n.1418+108G>A | |
| ENST00000537458.5:n.535+108G>A | ||
| ENST00000539064.5:n.1177+108G>A | ||
| ENST00000543739.5:n.535+108G>A | ||
| NM_002180.2:c.1418+108G>A , LRG_250t1:c.1418+108G>A | NP_002171.2:n.1418+108G>A | |
| XM_005273974.2:c.407+108G>A | XP_005274031.1:n.407+108G>A | |
| XM_005273975.2:c.290+108G>A | XP_005274032.1:n.290+108G>A | |
| XM_011544994.1:c.185+108G>A | XP_011543296.1:n.185+108G>A | |
| XR_949903.1:n.1520+108G>A | ||
| XM_005273975.3:c.290+108G>A | XP_005274032.1:n.290+108G>A | |
| XM_017017669.2:c.407+108G>A | XP_016873158.1:n.407+108G>A | |
| XM_017017670.2:c.407+108G>A | XP_016873159.1:n.407+108G>A | |
| XM_017017671.2:c.1418+108G>A | XP_016873160.1:n.1418+108G>A | |
| XR_949903.3:n.1516+108G>A | ||
| NM_002180.3:c.1418+108G>A MANE Select | NP_002171.2:n.1418+108G>A |