Linked Data
ClinVar Variation Id:
1948535
ClinVar RCV Id:
RCV002685780
dbSNP Id:
rs755003532
ExAC:
3:52156511 C / A
gnomAD v2:
3-52156511-C-A
gnomAD v4:
3-52122495-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52122495C>A , CM000665.2:g.52122495C>A | GRCh38 |
| NC_000003.11:g.52156511C>A , CM000665.1:g.52156511C>A | GRCh37 |
| NC_000003.10:g.52131551C>A | NCBI36 |
| NG_032947.1:g.37196G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296484.7:c.883-18G>T MANE Select | ENSP00000296484.2:n.883-18G>T | |
| ENST00000296484.6:c.883-18G>T | ENSP00000296484.2:n.883-18G>T | |
| ENST00000394970.6:c.883-18G>T | ENSP00000378421.2:n.883-18G>T | |
| ENST00000474012.1:c.769-18G>T | ENSP00000418968.1:n.769-18G>T | |
| NM_001161580.1:c.883-18G>T | NP_001155052.1:n.883-18G>T | |
| NM_001161581.1:c.769-18G>T | NP_001155053.1:n.769-18G>T | |
| NM_015426.4:c.883-18G>T | NP_056241.3:n.883-18G>T | |
| XM_011533560.1:c.882+2618G>T | XP_011531862.1:n.882+2618G>T | |
| XM_011533561.1:c.882+2618G>T | XP_011531863.1:n.882+2618G>T | |
| XM_011533562.1:c.*1084G>T | XP_011531864.1:n.*1084G>T | |
| XM_011533563.1:c.*7+2618G>T | XP_011531865.1:n.*7+2618G>T | |
| XM_011533564.1:c.*7+2618G>T | XP_011531866.1:n.*7+2618G>T | |
| XM_011533565.1:c.*1112G>T | XP_011531867.1:n.*1112G>T | |
| XR_940401.1:n.923-18G>T | ||
| XR_940402.1:n.789-18G>T | ||
| XR_940403.1:n.789-18G>T | ||
| XM_011533562.2:c.*1084G>T | XP_011531864.1:n.*1084G>T | |
| XM_011533564.3:c.*7+2618G>T | XP_011531866.1:n.*7+2618G>T | |
| XM_011533565.2:c.*1112G>T | XP_011531867.1:n.*1112G>T | |
| XM_017006104.1:c.769-18G>T | XP_016861593.1:n.769-18G>T | |
| XR_001740088.1:n.923-18G>T | ||
| NM_001161580.2:c.883-18G>T | NP_001155052.1:n.883-18G>T | |
| NM_001161581.2:c.769-18G>T | NP_001155053.1:n.769-18G>T | |
| NM_015426.5:c.883-18G>T MANE Select | NP_056241.3:n.883-18G>T |