Linked Data
dbSNP Id:
rs11190604
gnomAD v2:
10-102302457-A-G
gnomAD v3:
10-100542700-A-G
gnomAD v4:
10-100542700-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100542700A>G , CM000672.2:g.100542700A>G | GRCh38 |
| NC_000010.10:g.102302457A>G , CM000672.1:g.102302457A>G | GRCh37 |
| NC_000010.9:g.102292447A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299163.7:c.577+1918A>G MANE Select | ENSP00000299163.4:n.577+1918A>G | |
| ENST00000299163.6:c.577+1918A>G | ENSP00000299163.4:n.577+1918A>G | |
| ENST00000478787.1:n.341+1918A>G | ||
| ENST00000526476.5:c.*384+1918A>G | ENSP00000432791.1:n.*384+1918A>G | |
| ENST00000533589.6:c.256+1918A>G | ENSP00000433360.2:n.256+1918A>G | |
| NM_017902.2:c.577+1918A>G | NP_060372.2:n.577+1918A>G | |
| XM_011539940.1:c.637+1918A>G | XP_011538242.1:n.637+1918A>G | |
| XM_011539941.1:c.256+1918A>G | XP_011538243.1:n.256+1918A>G | |
| XM_011539940.2:c.637+1918A>G | XP_011538242.1:n.637+1918A>G | |
| NM_017902.3:c.577+1918A>G MANE Select | NP_060372.2:n.577+1918A>G |