Linked Data
ClinVar Variation Id:
383910
dbSNP Id:
rs200640366
ExAC:
2:32352108 A / C
gnomAD v2:
2-32352108-A-C
gnomAD v3:
2-32127039-A-C
gnomAD v4:
2-32127039-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32127039A>C , CM000664.2:g.32127039A>C | GRCh38 |
| NC_000002.11:g.32352108A>C , CM000664.1:g.32352108A>C | GRCh37 |
| NC_000002.10:g.32205612A>C | NCBI36 |
| NG_008730.1:g.68429A>C , LRG_714:g.68429A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*833+17A>C | ENSP00000515816.1:n.*833+17A>C | |
| ENST00000315285.9:c.1173+17A>C MANE Select | ENSP00000320885.3:n.1173+17A>C | |
| ENST00000621856.2:c.1170+17A>C | ENSP00000482496.2:n.1170+17A>C | |
| ENST00000642281.1:c.983-9524A>C | ||
| ENST00000642455.1:c.1074+17A>C | ENSP00000493827.1:n.1074+17A>C | |
| ENST00000642751.1:c.947+17A>C | ||
| ENST00000642999.1:c.915+17A>C | ENSP00000496589.1:n.915+17A>C | |
| ENST00000643327.1:c.332+17A>C | ||
| ENST00000643334.1:c.753+17A>C | ||
| ENST00000644408.1:c.1049+17A>C | ||
| ENST00000644954.1:c.819+17A>C | ENSP00000494312.1:n.819+17A>C | |
| ENST00000645159.1:n.542A>C | ||
| ENST00000645550.1:n.386+17A>C | ||
| ENST00000645671.1:c.623+17A>C | ||
| ENST00000645730.1:c.520+17A>C | ||
| ENST00000646082.1:c.819+17A>C | ||
| ENST00000646571.1:c.1077+17A>C | ENSP00000495015.1:n.1077+17A>C | |
| ENST00000647007.1:n.865+17A>C | ||
| ENST00000647133.1:c.674-1369A>C | ||
| ENST00000315285.7:c.1173+17A>C | ENSP00000320885.3:n.1173+17A>C | |
| ENST00000345662.5:c.1077+17A>C | ENSP00000340817.1:n.1077+17A>C | |
| ENST00000615843.4:c.1173+17A>C | ENSP00000480893.1:n.1173+17A>C | |
| ENST00000621856.1:c.915+17A>C | ENSP00000482496.1:n.915+17A>C | |
| NM_014946.3:c.1173+17A>C , LRG_714t1:c.1173+17A>C | NP_055761.2:n.1173+17A>C | |
| NM_199436.1:c.1077+17A>C | NP_955468.1:n.1077+17A>C | |
| XM_005264516.3:c.1170+17A>C | XP_005264573.1:n.1170+17A>C | |
| XM_011533067.1:c.1173+17A>C | XP_011531369.1:n.1173+17A>C | |
| NM_001363823.1:c.1170+17A>C | NP_001350752.1:n.1170+17A>C | |
| NM_001363875.1:c.1074+17A>C | NP_001350804.1:n.1074+17A>C | |
| XM_005264516.5:c.1170+17A>C | XP_005264573.1:n.1170+17A>C | |
| XM_011533067.2:c.1173+17A>C | XP_011531369.1:n.1173+17A>C | |
| XM_017004778.2:c.1077+17A>C | XP_016860267.1:n.1077+17A>C | |
| NM_001363823.2:c.1170+17A>C | NP_001350752.1:n.1170+17A>C | |
| NM_001363875.2:c.1074+17A>C | NP_001350804.1:n.1074+17A>C | |
| NM_001377959.1:c.1077+17A>C | NP_001364888.1:n.1077+17A>C | |
| NM_014946.4:c.1173+17A>C MANE Select | NP_055761.2:n.1173+17A>C | |
| NM_199436.2:c.1077+17A>C | NP_955468.1:n.1077+17A>C |