Linked Data
ClinVar Variation Id:
332441
dbSNP Id:
rs368959759
ExAC:
2:175614665 C / T
gnomAD v2:
2-175614665-C-T
gnomAD v3:
2-174749937-C-T
gnomAD v4:
2-174749937-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174749937C>T , CM000664.2:g.174749937C>T | GRCh38 |
| NC_000002.11:g.175614665C>T , CM000664.1:g.175614665C>T | GRCh37 |
| NC_000002.10:g.175322911C>T | NCBI36 |
| NG_008172.1:g.19536G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.513+9G>A | ENSP00000490338.2:n.513+9G>A | |
| ENST00000672640.1:c.513+9G>A | ENSP00000500507.1:n.513+9G>A | |
| ENST00000261007.9:c.1077+9G>A | ENSP00000261007.5:n.1077+9G>A | |
| ENST00000348749.9:c.1002+9G>A MANE Select | ENSP00000261008.5:n.1002+9G>A | |
| ENST00000409219.5:c.1002+9G>A | ENSP00000386611.1:n.1002+9G>A | |
| ENST00000409542.5:c.756+9G>A | ENSP00000387026.1:n.756+9G>A | |
| ENST00000435083.5:c.*646+9G>A | ENSP00000395805.1:n.*646+9G>A | |
| NM_000079.3:c.1002+9G>A | NP_000070.1:n.1002+9G>A | |
| NM_001039523.2:c.1077+9G>A | NP_001034612.1:n.1077+9G>A | |
| XM_017003256.1:c.1098+9G>A | XP_016858745.1:n.1098+9G>A | |
| XM_017003257.1:c.1023+9G>A | XP_016858746.1:n.1023+9G>A | |
| NM_000079.4:c.1002+9G>A MANE Select | NP_000070.1:n.1002+9G>A | |
| NM_001039523.3:c.1077+9G>A | NP_001034612.1:n.1077+9G>A |