Linked Data
dbSNP Id:
rs1307639884
gnomAD v2:
11-134132421-A-G
gnomAD v3:
11-134262527-A-G
gnomAD v4:
11-134262527-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134262527A>G , CM000673.2:g.134262527A>G | GRCh38 |
| NC_000011.9:g.134132421A>G , CM000673.1:g.134132421A>G | GRCh37 |
| NC_000011.8:g.133637631A>G | NCBI36 |
| NG_015842.1:g.13988A>G , LRG_448:g.13988A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281182.9:c.1100A>G MANE Select | ENSP00000281182.5:p.Asn367Ser | |
| ENST00000281182.8:c.1100A>G | ENSP00000281182.4:p.Asn367Ser | |
| ENST00000374752.6:c.719A>G | ENSP00000363884.4:p.Asn240Ser | |
| ENST00000524426.5:c.*830A>G | ENSP00000431310.1:n.*830A>G | |
| ENST00000524502.2:n.100A>G | ||
| ENST00000524547.5:n.703A>G | ||
| ENST00000526026.5:c.*789A>G | ENSP00000431532.1:n.*789A>G | |
| ENST00000531338.5:n.1344A>G | ||
| ENST00000533387.5:n.2159A>G | ||
| NM_014384.2:c.1100A>G , LRG_448t1:c.1100A>G | NP_055199.1:p.Asn367Ser | |
| XM_005271501.2:c.1100A>G | XP_005271558.1:p.Asn367Ser | |
| XM_011542750.1:c.1100A>G | XP_011541052.1:p.Asn367Ser | |
| XR_947819.1:n.1164A>G | ||
| XR_947820.1:n.1552A>G | ||
| XR_947821.1:n.1309A>G | ||
| XR_947822.1:n.994A>G | ||
| XR_947823.1:n.1150A>G | ||
| XM_005271505.4:c.*1365A>G | XP_005271562.1:n.*1365A>G | |
| XM_011542750.3:c.1100A>G | XP_011541052.1:p.Asn367Ser | |
| XM_017017542.2:c.1100A>G | XP_016873031.1:p.Asn367Ser | |
| XM_017017543.2:c.1100A>G | XP_016873032.1:p.Asn367Ser | |
| XM_017017544.2:c.*69A>G | XP_016873033.1:n.*69A>G | |
| XM_017017545.2:c.*312A>G | XP_016873034.1:n.*312A>G | |
| XM_017017546.2:c.806A>G | XP_016873035.1:p.Asn269Ser | |
| XM_017017547.2:c.806A>G | XP_016873036.1:p.Asn269Ser | |
| XM_017017548.2:c.*1736A>G | XP_016873037.1:n.*1736A>G | |
| XM_017017549.2:c.*1510A>G | XP_016873038.1:n.*1510A>G | |
| XM_024448437.1:c.*247A>G | XP_024304205.1:n.*247A>G | |
| XM_024448438.1:c.719A>G | XP_024304206.1:p.Asn240Ser | |
| NM_014384.3:c.1100A>G MANE Select | NP_055199.1:p.Asn367Ser |