Linked Data
dbSNP Id:
rs1052717
gnomAD v2:
22-42281429-A-G
gnomAD v3:
22-41885425-A-G
gnomAD v4:
22-41885425-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41885425A>G , CM000684.2:g.41885425A>G | GRCh38 |
| NC_000022.10:g.42281429A>G , CM000684.1:g.42281429A>G | GRCh37 |
| NC_000022.9:g.40611375A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710853.1:c.2118+414A>G | ENSP00000518526.1:n.2118+414A>G | |
| ENST00000361204.9:c.2208+414A>G MANE Select | ENSP00000354476.4:n.2208+414A>G | |
| ENST00000361204.8:c.2208+414A>G | ENSP00000354476.4:n.2208+414A>G | |
| ENST00000424354.5:c.*253+414A>G | ENSP00000395728.1:n.*253+414A>G | |
| ENST00000612482.4:c.*253+414A>G | ENSP00000484441.1:n.*253+414A>G | |
| NM_004599.3:c.2208+414A>G | NP_004590.2:n.2208+414A>G | |
| NR_103834.1:n.2500+414A>G | ||
| XM_006724310.1:c.2118+414A>G | XP_006724373.1:n.2118+414A>G | |
| XM_011530347.1:c.1833+414A>G | XP_011528649.1:n.1833+414A>G | |
| XR_938277.1:n.240A>G | ||
| XM_006724310.3:c.2118+414A>G | XP_006724373.1:n.2118+414A>G | |
| XM_011530347.2:c.1833+414A>G | XP_011528649.1:n.1833+414A>G | |
| XM_017028921.2:c.2208+414A>G | XP_016884410.1:n.2208+414A>G | |
| XM_017028922.2:c.2208+414A>G | XP_016884411.1:n.2208+414A>G | |
| XR_001755276.2:n.2351+414A>G | ||
| XR_001755277.2:n.2351+414A>G | ||
| XR_001755278.2:n.2474+414A>G | ||
| NM_004599.4:c.2208+414A>G MANE Select | NP_004590.2:n.2208+414A>G | |
| NR_103834.2:n.2474+414A>G |