Linked Data
ClinVar Variation Id:
279711
dbSNP Id:
rs886041147
gnomAD v2:
17-59763228-T-A
gnomAD v3:
17-61685867-T-A
gnomAD v4:
17-61685867-T-A
PubMed:
PMID:25318351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61685867T>A , CM000679.2:g.61685867T>A | GRCh38 |
| NC_000017.10:g.59763228T>A , CM000679.1:g.59763228T>A | GRCh37 |
| NC_000017.9:g.57118010T>A | NCBI36 |
| NG_007409.2:g.182693A>T , LRG_300:g.182693A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.3004A>T | ENSP00000507191.1:n.3004A>T | |
| ENST00000682073.1:n.1614A>T | ||
| ENST00000682433.1:n.1953A>T | ||
| ENST00000682453.1:c.2874A>T | ENSP00000506943.1:p.Leu958= | |
| ENST00000682477.1:c.*2300A>T | ENSP00000507075.1:n.*2300A>T | |
| ENST00000682589.1:n.8751A>T | ||
| ENST00000682755.1:c.2652A>T | ENSP00000507660.1:p.Leu884= | |
| ENST00000682989.1:c.2610-1727A>T | ENSP00000507786.1:n.2610-1727A>T | |
| ENST00000683039.1:c.2874A>T | ENSP00000508303.1:p.Leu958= | |
| ENST00000683235.1:c.*289A>T | ENSP00000507646.1:n.*289A>T | |
| ENST00000683535.1:n.1004A>T | ||
| ENST00000684471.1:n.1287A>T | ||
| ENST00000684584.1:c.2069-1727A>T | ENSP00000508044.1:n.2069-1727A>T | |
| ENST00000684626.1:n.1120A>T | ||
| ENST00000684769.1:c.1064A>T | ENSP00000507691.1:n.1064A>T | |
| ENST00000259008.7:c.2874A>T MANE Select | ENSP00000259008.2:p.Leu958= | |
| ENST00000259008.6:c.2874A>T | ENSP00000259008.2:p.Leu958= | |
| ENST00000577598.5:c.2874A>T | ENSP00000464654.1:p.Leu958= | |
| NM_032043.2:c.2874A>T , LRG_300t1:c.2874A>T | NP_114432.2:p.Leu958= | |
| XM_011525332.1:c.2934A>T | XP_011523634.1:p.Leu978= | |
| XM_011525333.1:c.2934A>T | XP_011523635.1:p.Leu978= | |
| XM_011525334.1:c.2934A>T | XP_011523636.1:p.Leu978= | |
| XM_011525335.1:c.2874A>T | XP_011523637.1:p.Leu958= | |
| XM_011525336.1:c.2814A>T | XP_011523638.1:p.Leu938= | |
| XM_011525337.1:c.2733A>T | XP_011523639.1:p.Leu911= | |
| XM_011525338.1:c.2451A>T | XP_011523640.1:p.Leu817= | |
| XM_011525332.3:c.2934A>T | XP_011523634.1:p.Leu978= | |
| XM_011525333.3:c.2934A>T | XP_011523635.1:p.Leu978= | |
| XM_011525334.2:c.2934A>T | XP_011523636.1:p.Leu978= | |
| XM_011525335.3:c.2874A>T | XP_011523637.1:p.Leu958= | |
| XM_011525336.2:c.2814A>T | XP_011523638.1:p.Leu938= | |
| XM_011525337.2:c.2733A>T | XP_011523639.1:p.Leu911= | |
| XM_011525338.2:c.2451A>T | XP_011523640.1:p.Leu817= | |
| XM_017025200.1:c.2391A>T | XP_016880689.1:p.Leu797= | |
| XM_017025201.1:c.2391A>T | XP_016880690.1:p.Leu797= | |
| XM_017025202.1:c.1020A>T | XP_016880691.1:p.Leu340= | |
| XM_017025203.1:c.1020A>T | XP_016880692.1:p.Leu340= | |
| NM_032043.3:c.2874A>T MANE Select | NP_114432.2:p.Leu958= |