Linked Data
ClinVar Variation Id:
472617
dbSNP Id:
rs772193051
ExAC:
17:33430464 A / G
gnomAD v2:
17-33430464-A-G
gnomAD v3:
17-35103445-A-G
gnomAD v4:
17-35103445-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35103445A>G , CM000679.2:g.35103445A>G | GRCh38 |
| NC_000017.10:g.33430464A>G , CM000679.1:g.33430464A>G | GRCh37 |
| NC_000017.9:g.30454577A>G | NCBI36 |
| NG_031858.1:g.21425T>C , LRG_516:g.21425T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.532+9T>C | ENSP00000468273.3:n.532+9T>C | |
| ENST00000587405.6:c.310+9T>C | ENSP00000466478.2:n.310+9T>C | |
| ENST00000590016.6:c.727+9T>C | ENSP00000466399.1:n.727+9T>C | |
| ENST00000592577.6:c.310+9T>C | ENSP00000466839.2:n.310+9T>C | |
| ENST00000345365.11:c.667+9T>C MANE Select | ENSP00000338790.6:n.667+9T>C | |
| ENST00000335858.11:c.331+9T>C | ENSP00000338408.6:n.331+9T>C | |
| ENST00000345365.10:c.667+9T>C | ENSP00000338790.6:n.667+9T>C | |
| ENST00000394589.8:c.667+9T>C | ENSP00000378090.4:n.667+9T>C | |
| ENST00000460118.6:c.136+9T>C | ENSP00000464356.2:n.136+9T>C | |
| ENST00000586044.5:c.*398+9T>C | ENSP00000465584.1:n.*398+9T>C | |
| ENST00000586210.5:c.*261+9T>C | ENSP00000465612.1:n.*261+9T>C | |
| ENST00000587405.5:c.310+9T>C | ENSP00000466478.1:n.310+9T>C | |
| ENST00000587977.5:c.*407+9T>C | ENSP00000466587.1:n.*407+9T>C | |
| ENST00000588372.5:c.*150+9T>C | ENSP00000468764.1:n.*150+9T>C | |
| ENST00000588594.5:c.*263+9T>C | ENSP00000465366.1:n.*263+9T>C | |
| ENST00000590016.5:c.727+9T>C | ENSP00000466399.1:n.727+9T>C | |
| ENST00000591723.5:c.136+9T>C | ENSP00000467986.1:n.136+9T>C | |
| ENST00000592181.1:c.310+9T>C | ENSP00000464799.1:n.310+9T>C | |
| ENST00000592577.5:c.673+9T>C | ENSP00000466839.1:n.673+9T>C | |
| ENST00000593039.5:c.190+9T>C | ENSP00000466834.1:n.190+9T>C | |
| NM_001142571.1:c.727+9T>C | NP_001136043.1:n.727+9T>C | |
| NM_002878.3:c.667+9T>C , LRG_516t1:c.667+9T>C | NP_002869.3:n.667+9T>C | |
| NM_133629.2:c.331+9T>C | NP_598332.1:n.331+9T>C | |
| NR_037711.1:n.804+9T>C | ||
| NR_037712.1:n.669+9T>C | ||
| NR_037714.1:n.419+9T>C | ||
| NM_001142571.2:c.727+9T>C | NP_001136043.1:n.727+9T>C | |
| NM_133629.3:c.331+9T>C | NP_598332.1:n.331+9T>C | |
| NR_037711.2:n.693+9T>C | ||
| NR_037712.2:n.558+9T>C | ||
| NM_002878.4:c.667+9T>C MANE Select | NP_002869.3:n.667+9T>C |