Linked Data
ClinVar Variation Id:
1598739
ClinVar RCV Id:
RCV002122757
dbSNP Id:
rs7604576
ExAC:
2:25047408 A / G
gnomAD v2:
2-25047408-A-G
gnomAD v3:
2-24824539-A-G
gnomAD v4:
2-24824539-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24824539A>G , CM000664.2:g.24824539A>G | GRCh38 |
| NC_000002.11:g.25047408A>G , CM000664.1:g.25047408A>G | GRCh37 |
| NC_000002.10:g.24900912A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405392.6:c.2581-3T>C | ENSP00000384484.2:n.2581-3T>C | |
| ENST00000679454.1:c.2578-3T>C MANE Select | ENSP00000505261.1:n.2578-3T>C | |
| ENST00000260600.9:c.2578-3T>C | ENSP00000260600.5:n.2578-3T>C | |
| ENST00000405392.5:c.2581-3T>C | ENSP00000384484.2:n.2581-3T>C | |
| ENST00000606682.5:c.1519-3T>C | ENSP00000475652.1:n.1519-3T>C | |
| NM_004036.3:c.2578-3T>C | NP_004027.2:n.2578-3T>C | |
| XM_005264104.1:c.2581-3T>C | XP_005264161.1:n.2581-3T>C | |
| XM_005264105.1:c.2578-3T>C | XP_005264162.1:n.2578-3T>C | |
| XM_006711925.1:c.2647-3T>C | XP_006711988.1:n.2647-3T>C | |
| XM_011532489.1:c.2704-3T>C | XP_011530791.1:n.2704-3T>C | |
| XM_011532490.1:c.2701-3T>C | XP_011530792.1:n.2701-3T>C | |
| XM_011532491.1:c.2638-3T>C | XP_011530793.1:n.2638-3T>C | |
| XM_011532492.1:c.2704-3T>C | XP_011530794.1:n.2704-3T>C | |
| XM_011532493.1:c.2566-3T>C | XP_011530795.1:n.2566-3T>C | |
| XM_011532494.1:c.2506-3T>C | XP_011530796.1:n.2506-3T>C | |
| XM_011532495.1:c.2038-3T>C | XP_011530797.1:n.2038-3T>C | |
| XM_011532496.1:c.1981-3T>C | XP_011530798.1:n.1981-3T>C | |
| NM_001320613.1:c.2581-3T>C | NP_001307542.1:n.2581-3T>C | |
| NM_004036.4:c.2578-3T>C | NP_004027.2:n.2578-3T>C | |
| XM_011532492.2:c.2704-3T>C | XP_011530794.1:n.2704-3T>C | |
| XM_017003186.1:c.2644-3T>C | XP_016858675.1:n.2644-3T>C | |
| XM_017003187.1:c.2635-3T>C | XP_016858676.1:n.2635-3T>C | |
| XM_017003188.1:c.2701-3T>C | XP_016858677.1:n.2701-3T>C | |
| XM_017003189.1:c.2563-3T>C | XP_016858678.1:n.2563-3T>C | |
| XM_017003190.1:c.2440-3T>C | XP_016858679.1:n.2440-3T>C | |
| XM_017003191.1:c.2068-3T>C | XP_016858680.1:n.2068-3T>C | |
| XM_017003192.1:c.1858-3T>C | XP_016858681.1:n.1858-3T>C | |
| XM_017003193.1:c.1855-3T>C | XP_016858682.1:n.1855-3T>C | |
| NM_001320613.2:c.2581-3T>C | NP_001307542.1:n.2581-3T>C | |
| NM_001377128.1:c.2644-3T>C | NP_001364057.1:n.2644-3T>C | |
| NM_001377129.1:c.2440-3T>C | NP_001364058.1:n.2440-3T>C | |
| NM_001377130.1:c.2173-3T>C | NP_001364059.1:n.2173-3T>C | |
| NM_001377131.1:c.1855-3T>C | NP_001364060.1:n.1855-3T>C | |
| NM_001377132.1:c.2578-3T>C | NP_001364061.1:n.2578-3T>C | |
| NM_004036.5:c.2578-3T>C MANE Select | NP_004027.2:n.2578-3T>C |