Linked Data
ClinVar Variation Id:
219332
ClinVar RCV Id:
RCV000203801
dbSNP Id:
rs864622031
COSMIC:
COSM5783216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42964121G>A , CM000675.2:g.42964121G>A | GRCh38 |
| NC_000013.10:g.43538257G>A , CM000675.1:g.43538257G>A | GRCh37 |
| NC_000013.9:g.42436257G>A | NCBI36 |
| NG_051573.1:g.33192C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313624.12:c.350C>T MANE Select | ENSP00000318643.7:p.Thr117Ile | |
| ENST00000313624.11:c.350C>T | ENSP00000318643.7:p.Thr117Ile | |
| ENST00000313640.11:c.350C>T | ENSP00000318982.7:p.Thr117Ile | |
| ENST00000398762.7:c.350C>T | ENSP00000381746.3:p.Thr117Ile | |
| ENST00000476830.6:n.449C>T | ||
| ENST00000537828.5:c.-32C>T | ENSP00000442662.1:n.-32C>T | |
| ENST00000538562.5:c.*48C>T | ENSP00000444923.1:n.*48C>T | |
| ENST00000540470.5:n.1890C>T | ||
| ENST00000542706.5:n.445C>T | ||
| NM_001002264.2:c.350C>T | NP_001002264.1:p.Thr117Ile | |
| NM_033255.3:c.350C>T | NP_150280.1:p.Thr117Ile | |
| XM_005266596.1:c.350C>T | XP_005266653.1:p.Thr117Ile | |
| XM_005266597.1:c.350C>T | XP_005266654.1:p.Thr117Ile | |
| XM_006719896.2:c.350C>T | XP_006719959.1:p.Thr117Ile | |
| XM_011535311.1:c.350C>T | XP_011533613.1:p.Thr117Ile | |
| XM_011535312.1:c.-32C>T | XP_011533614.1:n.-32C>T | |
| XM_011535313.1:c.-32C>T | XP_011533615.1:n.-32C>T | |
| NM_001002264.3:c.350C>T | NP_001002264.1:p.Thr117Ile | |
| NM_001330543.1:c.350C>T | NP_001317472.1:p.Thr117Ile | |
| NM_001331228.1:c.-32C>T | NP_001318157.1:n.-32C>T | |
| NM_033255.4:c.350C>T | NP_150280.1:p.Thr117Ile | |
| XM_006719896.4:c.350C>T | XP_006719959.1:p.Thr117Ile | |
| XM_011535312.2:c.-32C>T | XP_011533614.1:n.-32C>T | |
| XM_017020853.2:c.-32C>T | XP_016876342.1:n.-32C>T | |
| XM_017020854.1:c.-32C>T | XP_016876343.1:n.-32C>T | |
| XM_017020855.2:c.-32C>T | XP_016876344.1:n.-32C>T | |
| NM_001002264.4:c.350C>T | NP_001002264.1:p.Thr117Ile | |
| NM_001330543.2:c.350C>T | NP_001317472.1:p.Thr117Ile | |
| NM_001331228.2:c.-32C>T | NP_001318157.1:n.-32C>T | |
| NM_033255.5:c.350C>T MANE Select | NP_150280.1:p.Thr117Ile |