Linked Data
ClinVar Variation Id:
67924
ClinVar RCV Id:
RCV000058707
RCV000183085
RCV000247337
RCV000765734
RCV000766805
RCV001150546
RCV001842369
RCV003149713
RCV004528266
dbSNP Id:
rs199473278
ExAC:
3:38595797 A / T
gnomAD v2:
3-38595797-A-T
gnomAD v3:
3-38554306-A-T
gnomAD v4:
3-38554306-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38554306A>T , CM000665.2:g.38554306A>T | GRCh38 |
| NC_000003.11:g.38595797A>T , CM000665.1:g.38595797A>T | GRCh37 |
| NC_000003.10:g.38570801A>T | NCBI36 |
| NG_008934.1:g.100367T>A , LRG_289:g.100367T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327956.7:c.4783T>A | ENSP00000333674.7:p.Phe1595Ile | |
| ENST00000333535.9:c.4786T>A | ENSP00000328968.4:p.Phe1596Ile | |
| ENST00000413689.6:c.4786T>A MANE Plus Clinical | ENSP00000410257.1:p.Phe1596Ile | |
| ENST00000423572.7:c.4783T>A MANE Select | ENSP00000398266.2:p.Phe1595Ile | |
| ENST00000333535.8:c.4786T>A | ENSP00000328968.4:p.Phe1596Ile | |
| ENST00000413689.5:c.4786T>A | ENSP00000410257.1:p.Phe1596Ile | |
| ENST00000414099.6:c.4732T>A | ENSP00000398962.2:p.Phe1578Ile | |
| ENST00000423572.6:c.4783T>A | ENSP00000398266.2:p.Phe1595Ile | |
| ENST00000425664.5:c.4732T>A | ENSP00000416634.1:p.Phe1578Ile | |
| ENST00000449557.6:c.4624T>A | ENSP00000413996.2:p.Phe1542Ile | |
| ENST00000450102.6:c.4624T>A | ENSP00000403355.2:p.Phe1542Ile | |
| ENST00000451551.6:c.4624T>A | ENSP00000388797.2:p.Phe1542Ile | |
| ENST00000455624.6:c.4714+69T>A | ENSP00000399524.2:n.4714+69T>A | |
| ENST00000464652.1:n.244T>A | ||
| NM_000335.4:c.4783T>A , LRG_289t2:c.4783T>A | NP_000326.2:p.Phe1595Ile | |
| NM_001099404.1:c.4786T>A , LRG_289t3:c.4786T>A | NP_001092874.1:p.Phe1596Ile | |
| NM_001099405.1:c.4732T>A | NP_001092875.1:p.Phe1578Ile | |
| NM_001160160.1:c.4714+69T>A | NP_001153632.1:n.4714+69T>A | |
| NM_001160161.1:c.4624T>A | NP_001153633.1:p.Phe1542Ile | |
| NM_198056.2:c.4786T>A , LRG_289t1:c.4786T>A | NP_932173.1:p.Phe1596Ile | |
| XM_006713282.2:c.4786T>A | XP_006713345.1:p.Phe1596Ile | |
| XM_011533991.1:c.4783T>A | XP_011532293.1:p.Phe1595Ile | |
| XM_011533992.1:c.4657T>A | XP_011532294.1:p.Phe1553Ile | |
| NM_001354701.1:c.4729T>A | NP_001341630.1:p.Phe1577Ile | |
| XM_011533991.2:c.4783T>A | XP_011532293.1:p.Phe1595Ile | |
| XM_017007017.1:c.4624T>A | XP_016862506.1:p.Phe1542Ile | |
| NM_000335.5:c.4783T>A MANE Select | NP_000326.2:p.Phe1595Ile | |
| NM_001160160.2:c.4714+69T>A | NP_001153632.1:n.4714+69T>A | |
| NM_001354701.2:c.4729T>A | NP_001341630.1:p.Phe1577Ile | |
| NM_001099404.2:c.4786T>A MANE Plus Clinical | NP_001092874.1:p.Phe1596Ile | |
| NM_001099405.2:c.4732T>A | NP_001092875.1:p.Phe1578Ile | |
| NM_001160161.2:c.4624T>A | NP_001153633.1:p.Phe1542Ile | |
| NM_198056.3:c.4786T>A | NP_932173.1:p.Phe1596Ile |