Linked Data
ClinVar Variation Id:
407835
ClinVar RCV Id:
RCV000462189
RCV000563667
RCV001124866
RCV001194724
RCV001584150
RCV003463896
RCV004533180
dbSNP Id:
rs755796609
ExAC:
17:59878736 G / A
gnomAD v2:
17-59878736-G-A
gnomAD v3:
17-61801375-G-A
gnomAD v4:
17-61801375-G-A
PubMed:
PMID:26790966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61801375G>A , CM000679.2:g.61801375G>A | GRCh38 |
| NC_000017.10:g.59878736G>A , CM000679.1:g.59878736G>A | GRCh37 |
| NC_000017.9:g.57233518G>A | NCBI36 |
| NG_007409.2:g.67185C>T , LRG_300:g.67185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.511C>T | ENSP00000463827.2:p.Leu171Phe | |
| ENST00000584322.2:c.1018C>T | ENSP00000463272.2:p.Leu340Phe | |
| ENST00000682066.1:c.511C>T | ENSP00000507191.1:p.Leu171Phe | |
| ENST00000682453.1:c.1018C>T | ENSP00000506943.1:p.Leu340Phe | |
| ENST00000682477.1:c.1018C>T | ENSP00000507075.1:p.Leu340Phe | |
| ENST00000682589.1:n.2759C>T | ||
| ENST00000682611.1:c.511C>T | ENSP00000508326.1:p.Leu171Phe | |
| ENST00000682755.1:c.919-2076C>T | ENSP00000507660.1:n.919-2076C>T | |
| ENST00000682989.1:c.1018C>T | ENSP00000507786.1:p.Leu340Phe | |
| ENST00000683039.1:c.1018C>T | ENSP00000508303.1:p.Leu340Phe | |
| ENST00000683235.1:c.1018C>T | ENSP00000507646.1:p.Leu340Phe | |
| ENST00000683381.1:c.1018C>T | ENSP00000508184.1:p.Leu340Phe | |
| ENST00000683692.1:c.596C>T | ENSP00000507964.1:n.596C>T | |
| ENST00000684584.1:c.511C>T | ENSP00000508044.1:p.Leu171Phe | |
| ENST00000259008.7:c.1018C>T MANE Select | ENSP00000259008.2:p.Leu340Phe | |
| ENST00000259008.6:c.1018C>T | ENSP00000259008.2:p.Leu340Phe | |
| ENST00000577598.5:c.1018C>T | ENSP00000464654.1:p.Leu340Phe | |
| NM_032043.2:c.1018C>T , LRG_300t1:c.1018C>T | NP_114432.2:p.Leu340Phe | |
| XM_011525332.1:c.1018C>T | XP_011523634.1:p.Leu340Phe | |
| XM_011525333.1:c.1018C>T | XP_011523635.1:p.Leu340Phe | |
| XM_011525334.1:c.1018C>T | XP_011523636.1:p.Leu340Phe | |
| XM_011525335.1:c.1018C>T | XP_011523637.1:p.Leu340Phe | |
| XM_011525336.1:c.1018C>T | XP_011523638.1:p.Leu340Phe | |
| XM_011525337.1:c.1018C>T | XP_011523639.1:p.Leu340Phe | |
| XM_011525338.1:c.535C>T | XP_011523640.1:p.Leu179Phe | |
| XM_011525339.1:c.1018C>T | XP_011523641.1:p.Leu340Phe | |
| XM_011525340.1:c.1018C>T | XP_011523642.1:p.Leu340Phe | |
| XM_011525341.1:c.1018C>T | XP_011523643.1:p.Leu340Phe | |
| XM_011525332.3:c.1018C>T | XP_011523634.1:p.Leu340Phe | |
| XM_011525333.3:c.1018C>T | XP_011523635.1:p.Leu340Phe | |
| XM_011525334.2:c.1018C>T | XP_011523636.1:p.Leu340Phe | |
| XM_011525335.3:c.1018C>T | XP_011523637.1:p.Leu340Phe | |
| XM_011525336.2:c.1018C>T | XP_011523638.1:p.Leu340Phe | |
| XM_011525337.2:c.1018C>T | XP_011523639.1:p.Leu340Phe | |
| XM_011525338.2:c.535C>T | XP_011523640.1:p.Leu179Phe | |
| XM_011525339.3:c.1018C>T | XP_011523641.1:p.Leu340Phe | |
| XM_011525340.3:c.1018C>T | XP_011523642.1:p.Leu340Phe | |
| XM_011525341.3:c.1018C>T | XP_011523643.1:p.Leu340Phe | |
| XM_017025200.1:c.535C>T | XP_016880689.1:p.Leu179Phe | |
| XM_017025201.1:c.475C>T | XP_016880690.1:p.Leu159Phe | |
| NM_032043.3:c.1018C>T MANE Select | NP_114432.2:p.Leu340Phe |