Linked Data
ClinVar Variation Id:
780136
dbSNP Id:
rs1056363482
gnomAD v2:
10-33552683-T-C
gnomAD v3:
10-33263755-T-C
gnomAD v4:
10-33263755-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.33263755T>C , CM000672.2:g.33263755T>C | GRCh38 |
| NC_000010.10:g.33552683T>C , CM000672.1:g.33552683T>C | GRCh37 |
| NC_000010.9:g.33592689T>C | NCBI36 |
| NG_030328.1:g.76151A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374867.7:c.549A>G MANE Select | ENSP00000364001.2:p.Ser183= | |
| ENST00000265371.8:c.549A>G | ENSP00000265371.3:p.Ser183= | |
| ENST00000374816.7:c.549A>G | ENSP00000363949.3:p.Ser183= | |
| ENST00000374821.9:c.549A>G | ENSP00000363954.5:p.Ser183= | |
| ENST00000374822.8:c.549A>G | ENSP00000363955.4:p.Ser183= | |
| ENST00000374823.9:c.549A>G | ENSP00000363956.5:p.Ser183= | |
| ENST00000374867.6:c.549A>G | ENSP00000364001.2:p.Ser183= | |
| ENST00000374875.5:c.6A>G | ENSP00000364009.1:p.Ser2= | |
| ENST00000395995.5:c.549A>G | ENSP00000379317.1:p.Ser183= | |
| ENST00000432372.6:c.549A>G | ENSP00000408911.2:p.Ser183= | |
| NM_001024628.2:c.549A>G | NP_001019799.1:p.Ser183= | |
| NM_001024629.2:c.549A>G | NP_001019800.1:p.Ser183= | |
| NM_001244972.1:c.549A>G | NP_001231901.1:p.Ser183= | |
| NM_001244973.1:c.549A>G | NP_001231902.1:p.Ser183= | |
| NM_003873.5:c.549A>G | NP_003864.4:p.Ser183= | |
| NR_045259.1:n.890A>G | ||
| XM_006717521.1:c.549A>G | XP_006717584.1:p.Ser183= | |
| XM_006717522.1:c.549A>G | XP_006717585.1:p.Ser183= | |
| XM_006717523.1:c.549A>G | XP_006717586.1:p.Ser183= | |
| XM_006717524.1:c.549A>G | XP_006717587.1:p.Ser183= | |
| XM_006717525.1:c.549A>G | XP_006717588.1:p.Ser183= | |
| XM_006717526.1:c.549A>G | XP_006717589.1:p.Ser183= | |
| XM_011519755.1:c.549A>G | XP_011518057.1:p.Ser183= | |
| XM_011519756.1:c.549A>G | XP_011518058.1:p.Ser183= | |
| NM_001330068.1:c.549A>G | NP_001316997.1:p.Ser183= | |
| XM_006717521.2:c.549A>G | XP_006717584.1:p.Ser183= | |
| XM_006717522.2:c.549A>G | XP_006717585.1:p.Ser183= | |
| XM_006717524.2:c.549A>G | XP_006717587.1:p.Ser183= | |
| XM_006717525.2:c.549A>G | XP_006717588.1:p.Ser183= | |
| XM_006717526.2:c.549A>G | XP_006717589.1:p.Ser183= | |
| XM_011519755.3:c.549A>G | XP_011518057.1:p.Ser183= | |
| XM_011519756.2:c.549A>G | XP_011518058.1:p.Ser183= | |
| XM_017016865.2:c.549A>G | XP_016872354.1:p.Ser183= | |
| XM_017016866.2:c.6A>G | XP_016872355.1:p.Ser2= | |
| NM_003873.6:c.549A>G | NP_003864.4:p.Ser183= | |
| NM_001024628.3:c.549A>G | NP_001019799.2:p.Ser183= | |
| NM_001024629.3:c.549A>G | NP_001019800.2:p.Ser183= | |
| NM_001244972.2:c.549A>G | NP_001231901.2:p.Ser183= | |
| NM_001244973.2:c.549A>G | NP_001231902.2:p.Ser183= | |
| NM_001330068.2:c.549A>G | NP_001316997.2:p.Ser183= | |
| NM_003873.7:c.549A>G MANE Select | NP_003864.5:p.Ser183= | |
| NR_045259.2:n.652A>G |