Linked Data
ClinVar Variation Id:
418400
ClinVar RCV Id:
RCV002525770
dbSNP Id:
rs1064793224
gnomAD v4:
13-100262754-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100262754G>A , CM000675.2:g.100262754G>A | GRCh38 |
| NC_000013.10:g.100915008G>A , CM000675.1:g.100915008G>A | GRCh37 |
| NC_000013.9:g.99713009G>A | NCBI36 |
| NG_008768.1:g.178672G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376285.6:c.742G>A MANE Select | ENSP00000365462.1:p.Glu248Lys | |
| ENST00000636366.1:c.621G>A | ||
| ENST00000636420.1:c.621G>A | ||
| ENST00000636475.1:c.621G>A | ||
| ENST00000637657.1:c.621G>A | ||
| ENST00000647303.1:c.*590G>A | ENSP00000495663.1:n.*590G>A | |
| ENST00000376279.7:c.742G>A | ENSP00000365456.3:p.Glu248Lys | |
| ENST00000376285.5:c.742G>A | ENSP00000365462.1:p.Glu248Lys | |
| ENST00000376286.8:c.664G>A | ENSP00000365463.4:p.Glu222Lys | |
| NM_000282.3:c.742G>A | NP_000273.2:p.Glu248Lys | |
| NM_001127692.2:c.664G>A | NP_001121164.1:p.Glu222Lys | |
| NM_001178004.1:c.742G>A | NP_001171475.1:p.Glu248Lys | |
| XM_005254059.2:c.742G>A | XP_005254116.1:p.Glu248Lys | |
| XM_011521093.1:c.742G>A | XP_011519395.1:p.Glu248Lys | |
| XR_931615.1:n.843G>A | ||
| XR_931616.1:n.843G>A | ||
| NM_001352605.1:c.742G>A | NP_001339534.1:p.Glu248Lys | |
| NM_001352606.1:c.742G>A | NP_001339535.1:p.Glu248Lys | |
| NM_001352607.1:c.664G>A | NP_001339536.1:p.Glu222Lys | |
| NM_001352608.1:c.664G>A | NP_001339537.1:p.Glu222Lys | |
| NM_001352609.1:c.742G>A | NP_001339538.1:p.Glu248Lys | |
| NM_001352610.1:c.-204G>A | NP_001339539.1:n.-204G>A | |
| NM_001352611.1:c.-204G>A | NP_001339540.1:n.-204G>A | |
| NM_001352612.1:c.-204G>A | NP_001339541.1:n.-204G>A | |
| NR_148027.1:n.848G>A | ||
| NR_148028.1:n.848G>A | ||
| NR_148029.1:n.770G>A | ||
| NR_148030.1:n.848G>A | ||
| NR_148031.1:n.848G>A | ||
| XM_017020605.1:c.742G>A | XP_016876094.1:p.Glu248Lys | |
| XM_017020606.1:c.664G>A | XP_016876095.1:p.Glu222Lys | |
| XM_017020607.1:c.643G>A | XP_016876096.1:p.Glu215Lys | |
| XM_017020609.1:c.643G>A | XP_016876098.1:p.Glu215Lys | |
| XM_017020611.1:c.742G>A | XP_016876100.1:p.Glu248Lys | |
| XM_017020612.1:c.742G>A | XP_016876101.1:p.Glu248Lys | |
| XM_017020613.1:c.742G>A | XP_016876102.1:p.Glu248Lys | |
| XM_017020615.1:c.742G>A | XP_016876104.1:p.Glu248Lys | |
| XM_017020616.1:c.742G>A | XP_016876105.1:p.Glu248Lys | |
| XR_001749567.1:n.843G>A | ||
| XR_001749568.1:n.843G>A | ||
| XR_001749569.1:n.843G>A | ||
| XR_001749574.1:n.694G>A | ||
| XR_001749576.1:n.843G>A | ||
| XR_001749577.1:n.843G>A | ||
| NM_000282.4:c.742G>A MANE Select | NP_000273.2:p.Glu248Lys | |
| NM_001352605.2:c.742G>A | NP_001339534.1:p.Glu248Lys | |
| NM_001352606.2:c.742G>A | NP_001339535.1:p.Glu248Lys | |
| NM_001352607.2:c.664G>A | NP_001339536.1:p.Glu222Lys | |
| NM_001352608.2:c.664G>A | NP_001339537.1:p.Glu222Lys | |
| NM_001352609.2:c.742G>A | NP_001339538.1:p.Glu248Lys | |
| NM_001352610.2:c.-204G>A | NP_001339539.1:n.-204G>A | |
| NM_001352611.2:c.-204G>A | NP_001339540.1:n.-204G>A | |
| NM_001352612.2:c.-204G>A | NP_001339541.1:n.-204G>A | |
| NR_148027.2:n.770G>A | ||
| NR_148028.2:n.770G>A | ||
| NR_148029.2:n.692G>A | ||
| NR_148030.2:n.770G>A | ||
| NR_148031.2:n.770G>A | ||
| NM_001127692.3:c.664G>A | NP_001121164.1:p.Glu222Lys | |
| NM_001178004.2:c.742G>A | NP_001171475.1:p.Glu248Lys |