Linked Data
ClinVar Variation Id:
427956
dbSNP Id:
rs375619307
ExAC:
12:98921754 C / T
gnomAD v2:
12-98921754-C-T
gnomAD v3:
12-98527976-C-T
gnomAD v4:
12-98527976-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98527976C>T , CM000674.2:g.98527976C>T | GRCh38 |
| NC_000012.11:g.98921754C>T , CM000674.1:g.98921754C>T | GRCh37 |
| NC_000012.10:g.97445885C>T | NCBI36 |
| NG_021393.1:g.17404C>T , LRG_443:g.17404C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556029.6:c.370C>T MANE Select | ENSP00000450627.1:p.Leu124Phe | |
| ENST00000261210.9:c.370C>T | ENSP00000261210.5:p.Leu124Phe | |
| ENST00000266732.8:c.370C>T | ENSP00000266732.4:p.Leu124Phe | |
| ENST00000343315.9:c.370C>T | ENSP00000340251.5:p.Leu124Phe | |
| ENST00000393053.6:c.370C>T | ENSP00000376773.2:p.Leu124Phe | |
| ENST00000546828.6:n.428C>T | ||
| ENST00000547214.1:n.92C>T | ||
| ENST00000548911.1:n.503C>T | ||
| ENST00000549938.5:n.357C>T | ||
| ENST00000552831.1:n.448C>T | ||
| ENST00000556029.5:c.370C>T | ENSP00000450627.1:p.Leu124Phe | |
| ENST00000556678.1:c.91C>T | ENSP00000451552.1:p.Leu31Phe | |
| NM_001032283.2:c.370C>T , LRG_443t1:c.370C>T | NP_001027454.1:p.Leu124Phe | |
| NM_001032284.2:c.370C>T | NP_001027455.1:p.Leu124Phe | |
| NM_001307975.1:c.370C>T | NP_001294904.1:p.Leu124Phe | |
| NM_003276.2:c.370C>T , LRG_443t2:c.370C>T | NP_003267.1:p.Leu124Phe | |
| XM_005269132.2:c.370C>T | XP_005269189.1:p.Leu124Phe | |
| XM_005269132.4:c.370C>T | XP_005269189.1:p.Leu124Phe | |
| XM_017019914.2:c.-537C>T | XP_016875403.1:n.-537C>T | |
| NM_001032283.3:c.370C>T MANE Select | NP_001027454.1:p.Leu124Phe | |
| NM_001032284.3:c.370C>T | NP_001027455.1:p.Leu124Phe | |
| NM_001307975.2:c.370C>T | NP_001294904.1:p.Leu124Phe |