Linked Data
ClinVar Variation Id:
1203743
ClinVar RCV Id:
RCV001569886
dbSNP Id:
rs146384236
ExAC:
3:121740829 C / A
gnomAD v2:
3-121740829-C-A
gnomAD v3:
3-122021982-C-A
gnomAD v4:
3-122021982-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122021982C>A , CM000665.2:g.122021982C>A | GRCh38 |
| NC_000003.11:g.121740829C>A , CM000665.1:g.121740829C>A | GRCh37 |
| NC_000003.10:g.123223519C>A | NCBI36 |
| NG_031870.1:g.5299G>T | |
| NG_031870.2:g.43573G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344209.10:c.58+38G>T MANE Select | ENSP00000345667.5:n.58+38G>T | |
| ENST00000642615.1:c.58+38G>T | ENSP00000495499.1:n.58+38G>T | |
| ENST00000273691.7:c.58+38G>T | ENSP00000273691.3:n.58+38G>T | |
| ENST00000344209.9:c.58+38G>T | ENSP00000345667.5:n.58+38G>T | |
| ENST00000393631.5:c.58+38G>T | ENSP00000377251.1:n.58+38G>T | |
| ENST00000460554.1:n.179+38G>T | ||
| NM_001199799.1:c.58+38G>T | NP_001186728.1:n.58+38G>T | |
| NM_001199800.1:c.58+38G>T | NP_001186729.1:n.58+38G>T | |
| NM_175924.3:c.58+38G>T | NP_787120.1:n.58+38G>T | |
| XM_011512738.1:c.58+38G>T | XP_011511040.1:n.58+38G>T | |
| XM_011512739.1:c.-347-14821G>T | XP_011511041.1:n.-347-14821G>T | |
| XM_011512738.2:c.58+38G>T | XP_011511040.1:n.58+38G>T | |
| XM_011512739.2:c.-347-14821G>T | XP_011511041.1:n.-347-14821G>T | |
| NM_001199799.2:c.58+38G>T MANE Select | NP_001186728.1:n.58+38G>T | |
| NM_001199800.2:c.58+38G>T | NP_001186729.1:n.58+38G>T | |
| NM_175924.4:c.58+38G>T | NP_787120.1:n.58+38G>T |