Linked Data
dbSNP Id:
rs115309145
gnomAD v2:
3-14190020-C-G
gnomAD v3:
3-14148520-C-G
gnomAD v4:
3-14148520-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148520C>G , CM000665.2:g.14148520C>G | GRCh38 |
| NC_000003.11:g.14190020C>G , CM000665.1:g.14190020C>G | GRCh37 |
| NC_000003.10:g.14165021C>G | NCBI36 |
| NG_011763.1:g.35153G>C , LRG_472:g.35153G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2420+42G>C MANE Select | ENSP00000285021.8:n.2420+42G>C | |
| ENST00000285021.11:c.2420+42G>C | ENSP00000285021.7:n.2420+42G>C | |
| ENST00000427795.2:n.285+42G>C | ||
| ENST00000476581.6:c.*1873+42G>C | ENSP00000424548.1:n.*1873+42G>C | |
| NM_004628.4:c.2420+42G>C , LRG_472t1:c.2420+42G>C | NP_004619.3:n.2420+42G>C | |
| NR_027299.1:n.2400+42G>C | ||
| XM_011534092.1:c.2420+42G>C | XP_011532394.1:n.2420+42G>C | |
| NM_001354726.1:c.1841+42G>C | NP_001341655.1:n.1841+42G>C | |
| NM_001354727.1:c.2414+42G>C | NP_001341656.1:n.2414+42G>C | |
| NM_001354729.1:c.2402+42G>C | NP_001341658.1:n.2402+42G>C | |
| NM_001354730.1:c.2174+42G>C | NP_001341659.1:n.2174+42G>C | |
| NR_148950.1:n.2363+42G>C | ||
| NR_148951.1:n.2239+42G>C | ||
| XR_001740256.2:n.2453+42G>C | ||
| XR_002959580.1:n.2453+42G>C | ||
| XR_002959581.1:n.4070+42G>C | ||
| NM_001354727.2:c.2414+42G>C | NP_001341656.1:n.2414+42G>C | |
| NM_004628.5:c.2420+42G>C MANE Select | NP_004619.3:n.2420+42G>C | |
| NR_148950.2:n.2292+42G>C | ||
| NR_148951.2:n.2168+42G>C | ||
| NM_001354726.2:c.1841+42G>C | NP_001341655.1:n.1841+42G>C | |
| NM_001354729.2:c.2402+42G>C | NP_001341658.1:n.2402+42G>C | |
| NM_001354730.2:c.2174+42G>C | NP_001341659.1:n.2174+42G>C |