Linked Data
ClinVar Variation Id:
48310
ClinVar RCV Id:
RCV000041630
RCV000058802
RCV000148839
RCV000234983
RCV000620507
RCV000987195
RCV001841613
dbSNP Id:
rs150264233
ExAC:
3:38592152 G / A
gnomAD v2:
3-38592152-G-A
gnomAD v3:
3-38550661-G-A
gnomAD v4:
3-38550661-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38550661G>A , CM000665.2:g.38550661G>A | GRCh38 |
| NC_000003.11:g.38592152G>A , CM000665.1:g.38592152G>A | GRCh37 |
| NC_000003.10:g.38567156G>A | NCBI36 |
| NG_008934.1:g.104012C>T , LRG_289:g.104012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327956.7:c.5708C>T | ENSP00000333674.7:p.Ser1903Leu | |
| ENST00000333535.9:c.5711C>T | ENSP00000328968.4:p.Ser1904Leu | |
| ENST00000413689.6:c.5711C>T MANE Plus Clinical | ENSP00000410257.1:p.Ser1904Leu | |
| ENST00000423572.7:c.5708C>T MANE Select | ENSP00000398266.2:p.Ser1903Leu | |
| ENST00000333535.8:c.5711C>T | ENSP00000328968.4:p.Ser1904Leu | |
| ENST00000413689.5:c.5711C>T | ENSP00000410257.1:p.Ser1904Leu | |
| ENST00000414099.6:c.5657C>T | ENSP00000398962.2:p.Ser1886Leu | |
| ENST00000423572.6:c.5708C>T | ENSP00000398266.2:p.Ser1903Leu | |
| ENST00000425664.5:c.5657C>T | ENSP00000416634.1:p.Ser1886Leu | |
| ENST00000449557.6:c.5549C>T | ENSP00000413996.2:p.Ser1850Leu | |
| ENST00000450102.6:c.5549C>T | ENSP00000403355.2:p.Ser1850Leu | |
| ENST00000451551.6:c.5549C>T | ENSP00000388797.2:p.Ser1850Leu | |
| ENST00000455624.6:c.5612C>T | ENSP00000399524.2:p.Ser1871Leu | |
| NM_000335.4:c.5708C>T , LRG_289t2:c.5708C>T | NP_000326.2:p.Ser1903Leu | |
| NM_001099404.1:c.5711C>T , LRG_289t3:c.5711C>T | NP_001092874.1:p.Ser1904Leu | |
| NM_001099405.1:c.5657C>T | NP_001092875.1:p.Ser1886Leu | |
| NM_001160160.1:c.5612C>T | NP_001153632.1:p.Ser1871Leu | |
| NM_001160161.1:c.5549C>T | NP_001153633.1:p.Ser1850Leu | |
| NM_198056.2:c.5711C>T , LRG_289t1:c.5711C>T | NP_932173.1:p.Ser1904Leu | |
| XM_006713282.2:c.5711C>T | XP_006713345.1:p.Ser1904Leu | |
| XM_011533991.1:c.5708C>T | XP_011532293.1:p.Ser1903Leu | |
| XM_011533992.1:c.5582C>T | XP_011532294.1:p.Ser1861Leu | |
| NM_001354701.1:c.5654C>T | NP_001341630.1:p.Ser1885Leu | |
| XM_011533991.2:c.5708C>T | XP_011532293.1:p.Ser1903Leu | |
| XM_017007017.1:c.5549C>T | XP_016862506.1:p.Ser1850Leu | |
| NM_000335.5:c.5708C>T MANE Select | NP_000326.2:p.Ser1903Leu | |
| NM_001160160.2:c.5612C>T | NP_001153632.1:p.Ser1871Leu | |
| NM_001354701.2:c.5654C>T | NP_001341630.1:p.Ser1885Leu | |
| NM_001099404.2:c.5711C>T MANE Plus Clinical | NP_001092874.1:p.Ser1904Leu | |
| NM_001099405.2:c.5657C>T | NP_001092875.1:p.Ser1886Leu | |
| NM_001160161.2:c.5549C>T | NP_001153633.1:p.Ser1850Leu | |
| NM_198056.3:c.5711C>T | NP_932173.1:p.Ser1904Leu |