Linked Data
ClinVar Variation Id:
336759
dbSNP Id:
rs202221613
ExAC:
2:63380093 A / G
gnomAD v2:
2-63380093-A-G
gnomAD v3:
2-63152958-A-G
gnomAD v4:
2-63152958-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63152958A>G , CM000664.2:g.63152958A>G | GRCh38 |
| NC_000002.11:g.63380093A>G , CM000664.1:g.63380093A>G | GRCh37 |
| NC_000002.10:g.63233597A>G | NCBI36 |
| NG_028144.1:g.440775T>C | |
| NG_028144.2:g.692868T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272321.12:c.2159-13T>C MANE Select | ENSP00000272321.7:n.2159-13T>C | |
| ENST00000272321.11:c.2159-13T>C | ENSP00000272321.7:n.2159-13T>C | |
| ENST00000398544.7:c.1682-13T>C | ENSP00000381552.3:n.1682-13T>C | |
| ENST00000409120.5:c.1583-13T>C | ENSP00000386769.1:n.1583-13T>C | |
| ENST00000409199.5:c.1583-13T>C | ENSP00000386592.1:n.1583-13T>C | |
| ENST00000409354.6:c.1417-13T>C | ENSP00000386795.2:n.1417-13T>C | |
| ENST00000487280.1:n.157T>C | ||
| NM_001042692.2:c.1682-13T>C | NP_001036157.1:n.1682-13T>C | |
| NM_015910.5:c.2159-13T>C | NP_056994.3:n.2159-13T>C | |
| NR_122106.1:n.1802-13T>C | ||
| XM_005264348.2:c.2079-13T>C | XP_005264405.1:n.2079-13T>C | |
| XM_011532881.1:c.2007-13T>C | XP_011531183.1:n.2007-13T>C | |
| XM_011532882.1:c.1980-13T>C | XP_011531184.1:n.1980-13T>C | |
| XM_011532883.1:c.2159-13T>C | XP_011531185.1:n.2159-13T>C | |
| XR_244934.1:n.2402-13T>C | ||
| XR_244935.1:n.2303-13T>C | ||
| NM_001042692.3:c.1682-13T>C | NP_001036157.1:n.1682-13T>C | |
| NM_001354044.1:c.2087-13T>C | NP_001340973.1:n.2087-13T>C | |
| NM_015910.6:c.2159-13T>C | NP_056994.3:n.2159-13T>C | |
| NR_122106.2:n.1802-13T>C | ||
| NR_148704.1:n.2935-13T>C | ||
| NR_148705.1:n.2584-13T>C | ||
| XM_005264348.4:c.2079-13T>C | XP_005264405.1:n.2079-13T>C | |
| XM_011532881.3:c.2007-13T>C | XP_011531183.1:n.2007-13T>C | |
| XR_001738759.2:n.2438-13T>C | ||
| XR_001738760.2:n.2616-13T>C | ||
| XR_002959303.1:n.2855-13T>C | ||
| XR_244934.3:n.2617-13T>C | ||
| NM_015910.7:c.2159-13T>C MANE Select | NP_056994.3:n.2159-13T>C | |
| NM_001354044.2:c.2087-13T>C | NP_001340973.1:n.2087-13T>C | |
| NR_148704.2:n.2613-13T>C | ||
| NR_148705.2:n.2262-13T>C |