Linked Data
ClinVar Variation Id:
260595
dbSNP Id:
rs79284104
ExAC:
20:8703083 C / T
gnomAD v2:
20-8703083-C-T
gnomAD v3:
20-8722436-C-T
gnomAD v4:
20-8722436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.8722436C>T , CM000682.2:g.8722436C>T | GRCh38 |
| NC_000020.10:g.8703083C>T , CM000682.1:g.8703083C>T | GRCh37 |
| NC_000020.9:g.8651083C>T | NCBI36 |
| NG_028168.1:g.594788C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338037.11:c.1581+15C>T MANE Select | ENSP00000338185.6:n.1581+15C>T | |
| ENST00000635830.1:n.1652+15C>T | ||
| ENST00000636319.1:c.*1024+15C>T | ENSP00000490455.1:n.*1024+15C>T | |
| ENST00000636825.1:n.1445+15C>T | ||
| ENST00000637919.1:c.1278+15C>T | ENSP00000490862.1:n.1278+15C>T | |
| ENST00000338037.10:c.1581+15C>T | ENSP00000338185.6:n.1581+15C>T | |
| ENST00000378637.6:c.1581+15C>T | ENSP00000367904.2:n.1581+15C>T | |
| ENST00000378641.7:c.1581+15C>T | ENSP00000367908.3:n.1581+15C>T | |
| ENST00000487210.5:c.803+15C>T | ||
| ENST00000494924.2:n.733+15C>T | ||
| ENST00000612075.4:c.1341+15C>T | ENSP00000479997.1:n.1341+15C>T | |
| ENST00000617005.4:c.1341+15C>T | ENSP00000477664.1:n.1341+15C>T | |
| ENST00000625874.2:c.1278+15C>T | ENSP00000486301.1:n.1278+15C>T | |
| ENST00000626966.2:c.1278+15C>T | ENSP00000487075.1:n.1278+15C>T | |
| NM_015192.3:c.1581+15C>T | NP_056007.1:n.1581+15C>T | |
| NM_182734.2:c.1581+15C>T | NP_877398.1:n.1581+15C>T | |
| XM_011529199.1:c.1581+15C>T | XP_011527501.1:n.1581+15C>T | |
| XM_011529200.1:c.1365+15C>T | XP_011527502.1:n.1365+15C>T | |
| XM_011529201.1:c.1278+15C>T | XP_011527503.1:n.1278+15C>T | |
| XM_011529202.1:c.1581+15C>T | XP_011527504.1:n.1581+15C>T | |
| NM_015192.4:c.1581+15C>T MANE Select | NP_056007.1:n.1581+15C>T | |
| NM_182734.3:c.1581+15C>T | NP_877398.1:n.1581+15C>T |