Linked Data
dbSNP Id:
rs11877878
gnomAD v2:
18-23764235-A-G
gnomAD v3:
18-26184271-A-G
gnomAD v4:
18-26184271-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.26184271A>G , CM000680.2:g.26184271A>G | GRCh38 |
| NC_000018.9:g.23764235A>G , CM000680.1:g.23764235A>G | GRCh37 |
| NC_000018.8:g.22018233A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415576.7:c.660+5141A>G MANE Select | ENSP00000409284.2:n.660+5141A>G | |
| ENST00000308268.10:c.678+5141A>G | ENSP00000311121.6:n.678+5141A>G | |
| ENST00000343848.10:c.546+5141A>G | ENSP00000345584.6:n.546+5141A>G | |
| ENST00000415576.6:c.660+5141A>G | ENSP00000409284.2:n.660+5141A>G | |
| ENST00000538664.2:c.*533+5141A>G | ENSP00000440327.2:n.*533+5141A>G | |
| ENST00000612461.1:c.582+5141A>G | ENSP00000482057.1:n.582+5141A>G | |
| NM_001025096.1:c.660+5141A>G | NP_001020267.1:n.660+5141A>G | |
| NM_001025097.1:c.546+5141A>G | NP_001020268.1:n.546+5141A>G | |
| NM_001308188.1:c.582+5141A>G | NP_001295117.1:n.582+5141A>G | |
| NM_144662.2:c.678+5141A>G | NP_653263.2:n.678+5141A>G | |
| XM_011525818.1:c.600+5141A>G | XP_011524120.1:n.600+5141A>G | |
| NM_001025096.2:c.660+5141A>G MANE Select | NP_001020267.1:n.660+5141A>G | |
| NM_001025097.2:c.546+5141A>G | NP_001020268.1:n.546+5141A>G | |
| NM_001308188.2:c.582+5141A>G | NP_001295117.1:n.582+5141A>G | |
| NM_144662.3:c.678+5141A>G | NP_653263.2:n.678+5141A>G |