Linked Data
ClinVar Variation Id:
1385982
ClinVar RCV Id:
RCV001889099
dbSNP Id:
rs2145774587
COSMIC:
COSM996062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543351C>A , CM000681.2:g.38543351C>A | GRCh38 |
| NC_000019.9:g.39033991C>A , CM000681.1:g.39033991C>A | GRCh37 |
| NC_000019.8:g.43725831C>A | NCBI36 |
| NG_008866.1:g.114652C>A , LRG_766:g.114652C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.104C>A | ||
| ENST00000689936.1:c.86C>A | ||
| ENST00000359596.8:c.11694C>A MANE Select | ENSP00000352608.2:p.Phe3898Leu | |
| ENST00000355481.8:c.11679C>A | ENSP00000347667.3:p.Phe3893Leu | |
| ENST00000359596.7:c.11694C>A | ENSP00000352608.2:p.Phe3898Leu | |
| ENST00000360985.7:c.11676C>A | ENSP00000354254.4:p.Phe3892Leu | |
| ENST00000593322.1:c.303C>A | ||
| ENST00000594335.5:c.5063C>A | ||
| NM_000540.2:c.11694C>A , LRG_766t1:c.11694C>A | NP_000531.2:p.Phe3898Leu | |
| NM_001042723.1:c.11679C>A | NP_001036188.1:p.Phe3893Leu | |
| XM_006723317.1:c.11676C>A | XP_006723380.1:p.Phe3892Leu | |
| XM_006723319.1:c.11661C>A | XP_006723382.1:p.Phe3887Leu | |
| XM_011527204.1:c.11691C>A | XP_011525506.1:p.Phe3897Leu | |
| XM_011527205.1:c.11694C>A | XP_011525507.1:p.Phe3898Leu | |
| XM_006723317.2:c.11676C>A | XP_006723380.1:p.Phe3892Leu | |
| XM_006723319.2:c.11661C>A | XP_006723382.1:p.Phe3887Leu | |
| XM_011527205.2:c.11694C>A | XP_011525507.1:p.Phe3898Leu | |
| NM_000540.3:c.11694C>A MANE Select | NP_000531.2:p.Phe3898Leu | |
| NM_001042723.2:c.11679C>A | NP_001036188.1:p.Phe3893Leu |