Linked Data
ClinVar Variation Id:
2774979
ClinVar RCV Id:
RCV003585037
dbSNP Id:
rs1378029485
gnomAD v2:
17-59760974-C-T
gnomAD v3:
17-61683613-C-T
gnomAD v4:
17-61683613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683613C>T , CM000679.2:g.61683613C>T | GRCh38 |
| NC_000017.10:g.59760974C>T , CM000679.1:g.59760974C>T | GRCh37 |
| NC_000017.9:g.57115756C>T | NCBI36 |
| NG_007409.2:g.184947G>A , LRG_300:g.184947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2173G>A | ||
| ENST00000682453.1:c.3433G>A | ENSP00000506943.1:p.Glu1145Lys | |
| ENST00000682477.1:c.*2859G>A | ENSP00000507075.1:n.*2859G>A | |
| ENST00000682589.1:n.9310G>A | ||
| ENST00000682755.1:c.3211G>A | ENSP00000507660.1:p.Glu1071Lys | |
| ENST00000682989.1:c.*524G>A | ENSP00000507786.1:n.*524G>A | |
| ENST00000683039.1:c.3433G>A | ENSP00000508303.1:p.Glu1145Lys | |
| ENST00000683235.1:c.*848G>A | ENSP00000507646.1:n.*848G>A | |
| ENST00000683535.1:n.1563G>A | ||
| ENST00000684584.1:c.2596G>A | ENSP00000508044.1:p.Glu866Lys | |
| ENST00000684626.1:n.1679G>A | ||
| ENST00000684769.1:c.1623G>A | ENSP00000507691.1:n.1623G>A | |
| ENST00000259008.7:c.3433G>A MANE Select | ENSP00000259008.2:p.Glu1145Lys | |
| ENST00000259008.6:c.3433G>A | ENSP00000259008.2:p.Glu1145Lys | |
| NM_032043.2:c.3433G>A , LRG_300t1:c.3433G>A | NP_114432.2:p.Glu1145Lys | |
| XM_011525332.1:c.3493G>A | XP_011523634.1:p.Glu1165Lys | |
| XM_011525333.1:c.3493G>A | XP_011523635.1:p.Glu1165Lys | |
| XM_011525334.1:c.3493G>A | XP_011523636.1:p.Glu1165Lys | |
| XM_011525335.1:c.3433G>A | XP_011523637.1:p.Glu1145Lys | |
| XM_011525336.1:c.3373G>A | XP_011523638.1:p.Glu1125Lys | |
| XM_011525337.1:c.3292G>A | XP_011523639.1:p.Glu1098Lys | |
| XM_011525338.1:c.3010G>A | XP_011523640.1:p.Glu1004Lys | |
| XM_011525332.3:c.3493G>A | XP_011523634.1:p.Glu1165Lys | |
| XM_011525333.3:c.3493G>A | XP_011523635.1:p.Glu1165Lys | |
| XM_011525334.2:c.3493G>A | XP_011523636.1:p.Glu1165Lys | |
| XM_011525335.3:c.3433G>A | XP_011523637.1:p.Glu1145Lys | |
| XM_011525336.2:c.3373G>A | XP_011523638.1:p.Glu1125Lys | |
| XM_011525337.2:c.3292G>A | XP_011523639.1:p.Glu1098Lys | |
| XM_011525338.2:c.3010G>A | XP_011523640.1:p.Glu1004Lys | |
| XM_017025200.1:c.2950G>A | XP_016880689.1:p.Glu984Lys | |
| XM_017025201.1:c.2950G>A | XP_016880690.1:p.Glu984Lys | |
| XM_017025202.1:c.1579G>A | XP_016880691.1:p.Glu527Lys | |
| XM_017025203.1:c.1579G>A | XP_016880692.1:p.Glu527Lys | |
| NM_032043.3:c.3433G>A MANE Select | NP_114432.2:p.Glu1145Lys |