Linked Data
ClinVar Variation Id:
2760740
ClinVar RCV Id:
RCV003591571
dbSNP Id:
rs368874586
gnomAD v3:
19-38586150-C-A
gnomAD v4:
19-38586150-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38586150C>A , CM000681.2:g.38586150C>A | GRCh38 |
| NC_000019.9:g.39076790C>A , CM000681.1:g.39076790C>A | GRCh37 |
| NC_000019.8:g.43768630C>A | NCBI36 |
| NG_008866.1:g.157451C>A , LRG_766:g.157451C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1864C>A | ||
| ENST00000688602.1:c.3261C>A | ||
| ENST00000689936.1:c.3233C>A | ||
| ENST00000692547.1:n.321C>A | ||
| ENST00000359596.8:c.14928C>A MANE Select | ENSP00000352608.2:p.Phe4976Leu | |
| ENST00000355481.8:c.14913C>A | ENSP00000347667.3:p.Phe4971Leu | |
| ENST00000359596.7:c.14928C>A | ENSP00000352608.2:p.Phe4976Leu | |
| ENST00000360985.7:c.14910C>A | ENSP00000354254.4:p.Phe4970Leu | |
| NM_000540.2:c.14928C>A , LRG_766t1:c.14928C>A | NP_000531.2:p.Phe4976Leu | |
| NM_001042723.1:c.14913C>A | NP_001036188.1:p.Phe4971Leu | |
| XM_006723317.1:c.14910C>A | XP_006723380.1:p.Phe4970Leu | |
| XM_006723319.1:c.14895C>A | XP_006723382.1:p.Phe4965Leu | |
| XM_011527204.1:c.14925C>A | XP_011525506.1:p.Phe4975Leu | |
| XM_011527205.1:c.14841C>A | XP_011525507.1:p.Phe4947Leu | |
| XM_006723317.2:c.14910C>A | XP_006723380.1:p.Phe4970Leu | |
| XM_006723319.2:c.14895C>A | XP_006723382.1:p.Phe4965Leu | |
| XM_011527205.2:c.14841C>A | XP_011525507.1:p.Phe4947Leu | |
| NM_000540.3:c.14928C>A MANE Select | NP_000531.2:p.Phe4976Leu | |
| NM_001042723.2:c.14913C>A | NP_001036188.1:p.Phe4971Leu |