Linked Data
ClinVar Variation Id:
520462
ClinVar RCV Id:
RCV000622370
RCV001143899
RCV001143900
RCV001143901
RCV001143902
RCV001143898
RCV001145795
RCV001841808
dbSNP Id:
rs772258197
ExAC:
3:38591925 C / A
gnomAD v2:
3-38591925-C-A
gnomAD v3:
3-38550434-C-A
gnomAD v4:
3-38550434-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38550434C>A , CM000665.2:g.38550434C>A | GRCh38 |
| NC_000003.11:g.38591925C>A , CM000665.1:g.38591925C>A | GRCh37 |
| NC_000003.10:g.38566929C>A | NCBI36 |
| NG_008934.1:g.104239G>T , LRG_289:g.104239G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327956.7:c.5935G>T | ENSP00000333674.7:p.Val1979Phe | |
| ENST00000333535.9:c.5938G>T | ENSP00000328968.4:p.Val1980Phe | |
| ENST00000413689.6:c.5938G>T MANE Plus Clinical | ENSP00000410257.1:p.Val1980Phe | |
| ENST00000423572.7:c.5935G>T MANE Select | ENSP00000398266.2:p.Val1979Phe | |
| ENST00000333535.8:c.5938G>T | ENSP00000328968.4:p.Val1980Phe | |
| ENST00000413689.5:c.5938G>T | ENSP00000410257.1:p.Val1980Phe | |
| ENST00000414099.6:c.5884G>T | ENSP00000398962.2:p.Val1962Phe | |
| ENST00000423572.6:c.5935G>T | ENSP00000398266.2:p.Val1979Phe | |
| ENST00000425664.5:c.5884G>T | ENSP00000416634.1:p.Val1962Phe | |
| ENST00000449557.6:c.5776G>T | ENSP00000413996.2:p.Val1926Phe | |
| ENST00000450102.6:c.5776G>T | ENSP00000403355.2:p.Val1926Phe | |
| ENST00000451551.6:c.5776G>T | ENSP00000388797.2:p.Val1926Phe | |
| ENST00000455624.6:c.5839G>T | ENSP00000399524.2:p.Val1947Phe | |
| NM_000335.4:c.5935G>T , LRG_289t2:c.5935G>T | NP_000326.2:p.Val1979Phe | |
| NM_001099404.1:c.5938G>T , LRG_289t3:c.5938G>T | NP_001092874.1:p.Val1980Phe | |
| NM_001099405.1:c.5884G>T | NP_001092875.1:p.Val1962Phe | |
| NM_001160160.1:c.5839G>T | NP_001153632.1:p.Val1947Phe | |
| NM_001160161.1:c.5776G>T | NP_001153633.1:p.Val1926Phe | |
| NM_198056.2:c.5938G>T , LRG_289t1:c.5938G>T | NP_932173.1:p.Val1980Phe | |
| XM_006713282.2:c.5938G>T | XP_006713345.1:p.Val1980Phe | |
| XM_011533991.1:c.5935G>T | XP_011532293.1:p.Val1979Phe | |
| XM_011533992.1:c.5809G>T | XP_011532294.1:p.Val1937Phe | |
| NM_001354701.1:c.5881G>T | NP_001341630.1:p.Val1961Phe | |
| XM_011533991.2:c.5935G>T | XP_011532293.1:p.Val1979Phe | |
| XM_017007017.1:c.5776G>T | XP_016862506.1:p.Val1926Phe | |
| NM_000335.5:c.5935G>T MANE Select | NP_000326.2:p.Val1979Phe | |
| NM_001160160.2:c.5839G>T | NP_001153632.1:p.Val1947Phe | |
| NM_001354701.2:c.5881G>T | NP_001341630.1:p.Val1961Phe | |
| NM_001099404.2:c.5938G>T MANE Plus Clinical | NP_001092874.1:p.Val1980Phe | |
| NM_001099405.2:c.5884G>T | NP_001092875.1:p.Val1962Phe | |
| NM_001160161.2:c.5776G>T | NP_001153633.1:p.Val1926Phe | |
| NM_198056.3:c.5938G>T | NP_932173.1:p.Val1980Phe |