Linked Data
dbSNP Id:
rs756493997
ExAC:
11:68701354 G / A
gnomAD v2:
11-68701354-G-A
gnomAD v4:
11-68933886-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933886G>A , CM000673.2:g.68933886G>A | GRCh38 |
| NC_000011.9:g.68701354G>A , CM000673.1:g.68701354G>A | GRCh37 |
| NC_000011.8:g.68457930G>A | NCBI36 |
| NG_007976.1:g.35036G>A , LRG_250:g.35036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1510G>A MANE Select | ENSP00000255078.4:p.Glu504Lys | |
| ENST00000674955.1:c.*227G>A | ENSP00000502463.1:n.*227G>A | |
| ENST00000675118.1:c.998G>A | ||
| ENST00000675205.1:n.183+405G>A | ||
| ENST00000675615.1:c.1510G>A | ENSP00000502413.1:p.Glu504Lys | |
| ENST00000675648.1:n.885G>A | ||
| ENST00000675997.1:n.113-578G>A | ||
| ENST00000676173.1:n.2255G>A | ||
| ENST00000676228.1:c.*833G>A | ENSP00000502375.1:n.*833G>A | |
| ENST00000255078.7:c.1510G>A | ENSP00000255078.3:p.Glu504Lys | |
| ENST00000537458.5:n.627G>A | ||
| ENST00000539064.5:n.1269G>A | ||
| ENST00000541229.5:n.205G>A | ||
| ENST00000543739.5:n.627G>A | ||
| NM_002180.2:c.1510G>A , LRG_250t1:c.1510G>A | NP_002171.2:p.Glu504Lys | |
| XM_005273974.2:c.499G>A | XP_005274031.1:p.Glu167Lys | |
| XM_005273975.2:c.382G>A | XP_005274032.1:p.Glu128Lys | |
| XM_011544994.1:c.277G>A | XP_011543296.1:p.Glu93Lys | |
| XR_949903.1:n.1612G>A | ||
| XM_005273975.3:c.382G>A | XP_005274032.1:p.Glu128Lys | |
| XM_017017669.2:c.499G>A | XP_016873158.1:p.Glu167Lys | |
| XM_017017670.2:c.499G>A | XP_016873159.1:p.Glu167Lys | |
| XM_017017671.2:c.1510G>A | XP_016873160.1:p.Glu504Lys | |
| XR_949903.3:n.1608G>A | ||
| NM_002180.3:c.1510G>A MANE Select | NP_002171.2:p.Glu504Lys |