Linked Data
ClinVar Variation Id:
1364896
ClinVar RCV Id:
RCV001937566
dbSNP Id:
rs750753561
gnomAD v4:
8-99861830-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99861830G>T , CM000670.2:g.99861830G>T | GRCh38 |
| NC_000008.10:g.100874058G>T , CM000670.1:g.100874058G>T | GRCh37 |
| NC_000008.9:g.100943234G>T | NCBI36 |
| NG_007098.2:g.853565G>T , LRG_351:g.853565G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*268G>T | ENSP00000507923.1:n.*268G>T | |
| ENST00000682358.1:n.11244G>T | ||
| ENST00000683334.1:c.*6856G>T | ENSP00000507369.1:n.*6856G>T | |
| ENST00000357162.7:c.11099G>T MANE Select | ENSP00000349685.2:p.Arg3700Leu | |
| ENST00000358544.7:c.11174G>T MANE Plus Clinical | ENSP00000351346.2:p.Arg3725Leu | |
| ENST00000357162.6:c.11099G>T | ENSP00000349685.2:p.Arg3700Leu | |
| ENST00000358544.6:c.11174G>T | ENSP00000351346.2:p.Arg3725Leu | |
| NM_017890.4:c.11174G>T , LRG_351t1:c.11174G>T | NP_060360.3:p.Arg3725Leu | |
| NM_152564.4:c.11099G>T , LRG_351t2:c.11099G>T | NP_689777.3:p.Arg3700Leu | |
| XM_005250800.2:c.11174G>T | XP_005250857.1:p.Arg3725Leu | |
| XM_005250801.3:c.11174G>T | XP_005250858.1:p.Arg3725Leu | |
| XM_011516848.1:c.11171G>T | XP_011515150.1:p.Arg3724Leu | |
| XM_011516849.1:c.11096G>T | XP_011515151.1:p.Arg3699Leu | |
| XM_011516850.1:c.10796G>T | XP_011515152.1:p.Arg3599Leu | |
| XM_011516851.1:c.8060G>T | XP_011515153.1:p.Arg2687Leu | |
| XM_011516852.1:c.8060G>T | XP_011515154.1:p.Arg2687Leu | |
| XM_011516854.1:c.6953G>T | XP_011515156.1:p.Arg2318Leu | |
| XM_005250800.3:c.11174G>T | XP_005250857.1:p.Arg3725Leu | |
| XM_005250801.5:c.11174G>T | XP_005250858.1:p.Arg3725Leu | |
| XM_011516848.2:c.11171G>T | XP_011515150.1:p.Arg3724Leu | |
| XM_011516849.2:c.11096G>T | XP_011515151.1:p.Arg3699Leu | |
| XM_011516850.2:c.10796G>T | XP_011515152.1:p.Arg3599Leu | |
| XM_011516851.2:c.8060G>T | XP_011515153.1:p.Arg2687Leu | |
| XM_011516852.2:c.8060G>T | XP_011515154.1:p.Arg2687Leu | |
| XM_011516854.2:c.6953G>T | XP_011515156.1:p.Arg2318Leu | |
| XM_017013109.1:c.10979G>T | XP_016868598.1:p.Arg3660Leu | |
| XM_017013111.1:c.8060G>T | XP_016868600.1:p.Arg2687Leu | |
| XM_017013112.1:c.6731G>T | XP_016868601.1:p.Arg2244Leu | |
| XM_024447074.1:c.9959G>T | XP_024302842.1:p.Arg3320Leu | |
| NM_017890.5:c.11174G>T MANE Plus Clinical | NP_060360.3:p.Arg3725Leu | |
| NM_152564.5:c.11099G>T MANE Select | NP_689777.3:p.Arg3700Leu |