Linked Data
ClinVar Variation Id:
141305
dbSNP Id:
rs587781644
ExAC:
17:59763413 T / C
gnomAD v2:
17-59763413-T-C
gnomAD v4:
17-61686052-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61686052T>C , CM000679.2:g.61686052T>C | GRCh38 |
| NC_000017.10:g.59763413T>C , CM000679.1:g.59763413T>C | GRCh37 |
| NC_000017.9:g.57118195T>C | NCBI36 |
| NG_007409.2:g.182508A>G , LRG_300:g.182508A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2819A>G | ENSP00000507191.1:n.2819A>G | |
| ENST00000682073.1:n.1429A>G | ||
| ENST00000682433.1:n.1768A>G | ||
| ENST00000682453.1:c.2689A>G | ENSP00000506943.1:p.Lys897Glu | |
| ENST00000682477.1:c.*2115A>G | ENSP00000507075.1:n.*2115A>G | |
| ENST00000682589.1:n.8566A>G | ||
| ENST00000682755.1:c.2467A>G | ENSP00000507660.1:p.Lys823Glu | |
| ENST00000682989.1:c.2610-1912A>G | ENSP00000507786.1:n.2610-1912A>G | |
| ENST00000683039.1:c.2689A>G | ENSP00000508303.1:p.Lys897Glu | |
| ENST00000683235.1:c.*104A>G | ENSP00000507646.1:n.*104A>G | |
| ENST00000683535.1:n.819A>G | ||
| ENST00000684471.1:n.1102A>G | ||
| ENST00000684584.1:c.2069-1912A>G | ENSP00000508044.1:n.2069-1912A>G | |
| ENST00000684626.1:n.935A>G | ||
| ENST00000684769.1:c.879A>G | ENSP00000507691.1:n.879A>G | |
| ENST00000259008.7:c.2689A>G MANE Select | ENSP00000259008.2:p.Lys897Glu | |
| ENST00000259008.6:c.2689A>G | ENSP00000259008.2:p.Lys897Glu | |
| ENST00000577598.5:c.2689A>G | ENSP00000464654.1:p.Lys897Glu | |
| NM_032043.2:c.2689A>G , LRG_300t1:c.2689A>G | NP_114432.2:p.Lys897Glu | |
| XM_011525332.1:c.2749A>G | XP_011523634.1:p.Lys917Glu | |
| XM_011525333.1:c.2749A>G | XP_011523635.1:p.Lys917Glu | |
| XM_011525334.1:c.2749A>G | XP_011523636.1:p.Lys917Glu | |
| XM_011525335.1:c.2689A>G | XP_011523637.1:p.Lys897Glu | |
| XM_011525336.1:c.2629A>G | XP_011523638.1:p.Lys877Glu | |
| XM_011525337.1:c.2548A>G | XP_011523639.1:p.Lys850Glu | |
| XM_011525338.1:c.2266A>G | XP_011523640.1:p.Lys756Glu | |
| XM_011525332.3:c.2749A>G | XP_011523634.1:p.Lys917Glu | |
| XM_011525333.3:c.2749A>G | XP_011523635.1:p.Lys917Glu | |
| XM_011525334.2:c.2749A>G | XP_011523636.1:p.Lys917Glu | |
| XM_011525335.3:c.2689A>G | XP_011523637.1:p.Lys897Glu | |
| XM_011525336.2:c.2629A>G | XP_011523638.1:p.Lys877Glu | |
| XM_011525337.2:c.2548A>G | XP_011523639.1:p.Lys850Glu | |
| XM_011525338.2:c.2266A>G | XP_011523640.1:p.Lys756Glu | |
| XM_017025200.1:c.2206A>G | XP_016880689.1:p.Lys736Glu | |
| XM_017025201.1:c.2206A>G | XP_016880690.1:p.Lys736Glu | |
| XM_017025202.1:c.835A>G | XP_016880691.1:p.Lys279Glu | |
| XM_017025203.1:c.835A>G | XP_016880692.1:p.Lys279Glu | |
| NM_032043.3:c.2689A>G MANE Select | NP_114432.2:p.Lys897Glu |