Linked Data
ClinVar Variation Id:
370303
dbSNP Id:
rs764322898
ExAC:
1:21880637 T / G
gnomAD v2:
1-21880637-T-G
gnomAD v4:
1-21554144-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21554144T>G , CM000663.2:g.21554144T>G | GRCh38 |
| NC_000001.10:g.21880637T>G , CM000663.1:g.21880637T>G | GRCh37 |
| NC_000001.9:g.21753224T>G | NCBI36 |
| NG_008940.1:g.49780T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.61+2T>G MANE Select | ENSP00000363973.3:n.61+2T>G | |
| ENST00000374832.5:c.61+2T>G | ENSP00000363965.1:n.61+2T>G | |
| ENST00000374840.7:c.61+2T>G | ENSP00000363973.3:n.61+2T>G | |
| ENST00000468526.1:n.122-6482T>G | ||
| ENST00000539907.5:c.-54-6482T>G | ENSP00000437674.1:n.-54-6482T>G | |
| ENST00000540617.5:c.-104-6482T>G | ENSP00000442672.1:n.-104-6482T>G | |
| NM_000478.4:c.61+2T>G | NP_000469.3:n.61+2T>G | |
| NM_001127501.2:c.-104-6482T>G | NP_001120973.2:n.-104-6482T>G | |
| NM_001177520.1:c.-54-6482T>G | NP_001170991.1:n.-54-6482T>G | |
| XM_005245818.1:c.61+2T>G | XP_005245875.1:n.61+2T>G | |
| XM_005245820.2:c.61+2T>G | XP_005245877.1:n.61+2T>G | |
| XM_006710546.1:c.61+2T>G | XP_006710609.1:n.61+2T>G | |
| NM_000478.5:c.61+2T>G | NP_000469.3:n.61+2T>G | |
| NM_001127501.3:c.-104-6482T>G | NP_001120973.2:n.-104-6482T>G | |
| NM_001177520.2:c.-54-6482T>G | NP_001170991.1:n.-54-6482T>G | |
| XM_006710546.3:c.61+2T>G | XP_006710609.1:n.61+2T>G | |
| NM_000478.6:c.61+2T>G MANE Select | NP_000469.3:n.61+2T>G | |
| NM_001127501.4:c.-104-6482T>G | NP_001120973.2:n.-104-6482T>G | |
| NM_001177520.3:c.-54-6482T>G | NP_001170991.1:n.-54-6482T>G | |
| NM_001369803.2:c.61+2T>G | NP_001356732.1:n.61+2T>G | |
| NM_001369804.2:c.61+2T>G | NP_001356733.1:n.61+2T>G | |
| NM_001369805.2:c.61+2T>G | NP_001356734.1:n.61+2T>G |