Linked Data
ClinVar Variation Id:
1585349
ClinVar RCV Id:
RCV002095331
dbSNP Id:
rs760443460
ExAC:
11:67257767 C / G
gnomAD v2:
11-67257767-C-G
gnomAD v4:
11-67490296-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490296C>G , CM000673.2:g.67490296C>G | GRCh38 |
| NC_000011.9:g.67257767C>G , CM000673.1:g.67257767C>G | GRCh37 |
| NC_000011.8:g.67014343C>G | NCBI36 |
| NG_008969.1:g.12263C>G , LRG_460:g.12263C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.623-20C>G (AIP) | ||
| ENST00000528641.7:c.457-20C>G (AIP) | ENSP00000434982.3:n.457-20C>G | |
| ENST00000529797.2:n.1158-20C>G (AIP) | ||
| ENST00000682324.1:c.469-701C>G (AIP) | ENSP00000508017.1:n.469-701C>G | |
| ENST00000682659.1:c.277-20C>G (AIP) | ENSP00000507351.1:n.277-20C>G | |
| ENST00000682699.1:c.646-20C>G (AIP) | ENSP00000507935.1:n.646-20C>G | |
| ENST00000683237.1:c.646-20C>G (AIP) | ENSP00000507343.1:n.646-20C>G | |
| ENST00000683856.1:c.469-20C>G (AIP) | ENSP00000507979.1:n.469-20C>G | |
| ENST00000684006.1:c.646-20C>G (AIP) | ENSP00000507269.1:n.646-20C>G | |
| ENST00000684657.1:c.466-20C>G (AIP) | ENSP00000507961.1:n.466-20C>G | |
| ENST00000279146.8:c.646-20C>G (AIP) MANE Select | ENSP00000279146.3:n.646-20C>G | |
| ENST00000279146.7:c.646-20C>G (AIP) | ENSP00000279146.3:n.646-20C>G | |
| ENST00000525341.1:c.298-20C>G (AIP) | ENSP00000476993.1:n.298-20C>G | |
| ENST00000528641.6:c.457-20C>G (AIP) | ENSP00000434982.2:n.457-20C>G | |
| NM_001302959.1:c.469-20C>G (AIP) | NP_001289888.1:n.469-20C>G | |
| NM_001302960.1:c.646-20C>G (AIP) | NP_001289889.1:n.646-20C>G | |
| NM_003977.3:c.646-20C>G (AIP) | NP_003968.3:n.646-20C>G | |
| NR_106810.1:n.52C>G (MIR6752) | ||
| XM_024448761.1:c.646-20C>G (AIP) | XP_024304529.1:n.646-20C>G | |
| NM_003977.4:c.646-20C>G (AIP) MANE Select | NP_003968.3:n.646-20C>G | |
| NM_001302960.2:c.646-20C>G (AIP) | NP_001289889.1:n.646-20C>G | |
| NM_001302959.2:c.469-20C>G (AIP) | NP_001289888.1:n.469-20C>G |