Linked Data
ClinVar Variation Id:
1220816
ClinVar RCV Id:
RCV001595378
dbSNP Id:
rs1131596
ExAC:
21:46957916 G / A
gnomAD v2:
21-46957916-G-A
gnomAD v3:
21-45538002-G-A
gnomAD v4:
21-45538002-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45538002G>A , CM000683.2:g.45538002G>A | GRCh38 |
| NC_000021.8:g.46957916G>A , CM000683.1:g.46957916G>A | GRCh37 |
| NC_000021.7:g.45782344G>A | NCBI36 |
| NG_028278.1:g.9470C>T | |
| NG_028278.2:g.30142C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311124.9:c.-43C>T MANE Select | ENSP00000308895.4:n.-43C>T | |
| ENST00000650808.1:c.-43C>T | ENSP00000498221.1:n.-43C>T | |
| ENST00000311124.8:c.-43C>T | ENSP00000308895.4:n.-43C>T | |
| ENST00000380010.8:c.-43C>T | ENSP00000369347.4:n.-43C>T | |
| ENST00000427839.5:c.-43C>T | ENSP00000401850.1:n.-43C>T | |
| ENST00000443742.1:c.-43C>T | ENSP00000411345.1:n.-43C>T | |
| ENST00000528477.1:c.-43C>T | ENSP00000435780.1:n.-43C>T | |
| ENST00000567670.5:c.-43C>T | ENSP00000457278.1:n.-43C>T | |
| NM_001205206.1:c.-43C>T | NP_001192135.1:n.-43C>T | |
| NM_194255.2:c.-43C>T | NP_919231.1:n.-43C>T | |
| XM_005261164.2:c.-401C>T | XP_005261221.1:n.-401C>T | |
| XM_011529696.1:c.249C>T | XP_011527998.1:p.Ser83= | |
| XM_011529697.1:c.249C>T | XP_011527999.1:p.Ser83= | |
| XM_011529698.1:c.24C>T | XP_011528000.1:p.Ser8= | |
| XM_011529700.1:c.-43C>T | XP_011528002.1:n.-43C>T | |
| XM_011529701.1:c.-43C>T | XP_011528003.1:n.-43C>T | |
| XM_011529702.1:c.-43C>T | XP_011528004.1:n.-43C>T | |
| XM_011529703.1:c.-43C>T | XP_011528005.1:n.-43C>T | |
| XM_011529704.1:c.-43C>T | XP_011528006.1:n.-43C>T | |
| XM_011529705.1:c.249C>T | XP_011528007.1:p.Ser83= | |
| XM_011529707.1:c.249C>T | XP_011528009.1:p.Ser83= | |
| XM_011529708.1:c.-43C>T | XP_011528010.1:n.-43C>T | |
| XM_011529709.1:c.-401C>T | XP_011528011.1:n.-401C>T | |
| XM_011529710.1:c.-165-5854C>T | XP_011528012.1:n.-165-5854C>T | |
| NM_001205206.2:c.-43C>T | NP_001192135.1:n.-43C>T | |
| NM_001352510.1:c.-401C>T | NP_001339439.1:n.-401C>T | |
| NM_001352511.1:c.-43C>T | NP_001339440.1:n.-43C>T | |
| NM_001352512.1:c.-43C>T | NP_001339441.1:n.-43C>T | |
| NM_194255.3:c.-43C>T | NP_919231.1:n.-43C>T | |
| XM_011529696.2:c.249C>T | XP_011527998.1:p.Ser83= | |
| XM_011529698.2:c.24C>T | XP_011528000.1:p.Ser8= | |
| XM_011529700.2:c.-43C>T | XP_011528002.1:n.-43C>T | |
| XM_011529701.2:c.-43C>T | XP_011528003.1:n.-43C>T | |
| XM_011529702.2:c.-43C>T | XP_011528004.1:n.-43C>T | |
| XM_011529703.2:c.-43C>T | XP_011528005.1:n.-43C>T | |
| XM_011529709.2:c.-401C>T | XP_011528011.1:n.-401C>T | |
| XM_017028443.1:c.162C>T | XP_016883932.1:p.Ser54= | |
| XM_017028444.1:c.249C>T | XP_016883933.1:p.Ser83= | |
| XM_017028445.2:c.249C>T | XP_016883934.1:p.Ser83= | |
| NM_194255.4:c.-43C>T MANE Select | NP_919231.1:n.-43C>T | |
| NM_001205206.3:c.-43C>T | NP_001192135.1:n.-43C>T | |
| NM_001352510.2:c.-401C>T | NP_001339439.1:n.-401C>T | |
| NM_001352511.2:c.-43C>T | NP_001339440.1:n.-43C>T | |
| NM_001352512.2:c.-43C>T | NP_001339441.1:n.-43C>T | |
| NM_001205206.4:c.-43C>T | NP_001192135.1:n.-43C>T | |
| NM_001352511.3:c.-43C>T | NP_001339440.1:n.-43C>T |