Linked Data
dbSNP Id:
rs838552
gnomAD v2:
2-234422029-A-G
gnomAD v3:
2-233513383-A-G
gnomAD v4:
2-233513383-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233513383A>G , CM000664.2:g.233513383A>G | GRCh38 |
| NC_000002.11:g.234422029A>G , CM000664.1:g.234422029A>G | GRCh37 |
| NC_000002.10:g.234086768A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000678225.2:c.2384-761T>C MANE Select | ENSP00000502952.1:n.2384-761T>C | |
| ENST00000678225.1:c.2382-759T>C | ENSP00000502952.1:n.2382-759T>C | |
| ENST00000251722.10:c.2381-761T>C | ENSP00000251722.6:n.2381-761T>C | |
| ENST00000427112.6:c.2381-761T>C | ENSP00000387898.2:n.2381-761T>C | |
| ENST00000450966.5:c.2417-761T>C | ENSP00000415434.1:n.2417-761T>C | |
| NM_018218.2:c.2417-761T>C | NP_060688.1:n.2417-761T>C | |
| XM_006712612.2:c.2420-761T>C | XP_006712675.1:n.2420-761T>C | |
| XM_011511396.1:c.2420-761T>C | XP_011509698.1:n.2420-761T>C | |
| XM_011511397.1:c.2384-761T>C | XP_011509699.1:n.2384-761T>C | |
| XM_011511398.1:c.2420-761T>C | XP_011509700.1:n.2420-761T>C | |
| XM_011511399.1:c.2111-761T>C | XP_011509701.1:n.2111-761T>C | |
| XM_011511400.1:c.2000-761T>C | XP_011509702.1:n.2000-761T>C | |
| XM_011511401.1:c.2420-704T>C | XP_011509703.1:n.2420-704T>C | |
| XM_011511402.1:c.866-761T>C | XP_011509704.1:n.866-761T>C | |
| NM_001365479.1:c.2384-761T>C | NP_001352408.1:n.2384-761T>C | |
| NM_018218.3:c.2381-761T>C | NP_060688.2:n.2381-761T>C | |
| XM_006712612.3:c.2420-761T>C | XP_006712675.1:n.2420-761T>C | |
| XM_011511396.2:c.2420-761T>C | XP_011509698.1:n.2420-761T>C | |
| XM_011511397.2:c.2384-761T>C | XP_011509699.1:n.2384-761T>C | |
| XM_011511398.3:c.2420-761T>C | XP_011509700.1:n.2420-761T>C | |
| XM_011511399.2:c.2111-761T>C | XP_011509701.1:n.2111-761T>C | |
| XM_011511400.2:c.2000-761T>C | XP_011509702.1:n.2000-761T>C | |
| XM_011511401.2:c.2420-704T>C | XP_011509703.1:n.2420-704T>C | |
| XM_017004427.1:c.1349-761T>C | XP_016859916.1:n.1349-761T>C | |
| XM_017004428.1:c.866-761T>C | XP_016859917.1:n.866-761T>C | |
| XR_001738818.1:n.2435-761T>C | ||
| XR_001738819.1:n.2435-761T>C | ||
| XR_001738820.1:n.2509-761T>C | ||
| NM_001365479.2:c.2384-761T>C MANE Select | NP_001352408.1:n.2384-761T>C | |
| NM_001382295.1:c.2384-761T>C | NP_001369224.1:n.2384-761T>C | |
| NM_001382296.1:c.2384-761T>C | NP_001369225.1:n.2384-761T>C | |
| NM_001382297.1:c.2384-761T>C | NP_001369226.1:n.2384-761T>C | |
| NM_001382298.1:c.2111-761T>C | NP_001369227.1:n.2111-761T>C | |
| NM_001382299.1:c.2228-761T>C | NP_001369228.1:n.2228-761T>C | |
| NM_001382300.1:c.2384-761T>C | NP_001369229.1:n.2384-761T>C | |
| NM_001382301.1:c.2384-761T>C | NP_001369230.1:n.2384-761T>C | |
| NM_018218.4:c.2381-761T>C | NP_060688.2:n.2381-761T>C | |
| NR_168049.1:n.2570-761T>C | ||
| NR_168050.1:n.2568-761T>C | ||
| NR_168051.1:n.2502-761T>C | ||
| NR_168052.1:n.2502-761T>C | ||
| NR_168053.1:n.2511-761T>C | ||
| NR_168054.1:n.2323-761T>C |