Linked Data
dbSNP Id:
rs746785281
ExAC:
11:68701376 A / G
gnomAD v2:
11-68701376-A-G
gnomAD v3:
11-68933908-A-G
gnomAD v4:
11-68933908-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933908A>G , CM000673.2:g.68933908A>G | GRCh38 |
| NC_000011.9:g.68701376A>G , CM000673.1:g.68701376A>G | GRCh37 |
| NC_000011.8:g.68457952A>G | NCBI36 |
| NG_007976.1:g.35058A>G , LRG_250:g.35058A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1532A>G MANE Select | ENSP00000255078.4:p.Asn511Ser | |
| ENST00000674955.1:c.*249A>G | ENSP00000502463.1:n.*249A>G | |
| ENST00000675118.1:c.1020A>G | ||
| ENST00000675205.1:n.183+427A>G | ||
| ENST00000675615.1:c.1532A>G | ENSP00000502413.1:p.Asn511Ser | |
| ENST00000675648.1:n.907A>G | ||
| ENST00000675997.1:n.113-556A>G | ||
| ENST00000676173.1:n.2277A>G | ||
| ENST00000676228.1:c.*855A>G | ENSP00000502375.1:n.*855A>G | |
| ENST00000255078.7:c.1532A>G | ENSP00000255078.3:p.Asn511Ser | |
| ENST00000537458.5:n.649A>G | ||
| ENST00000539064.5:n.1291A>G | ||
| ENST00000541229.5:n.227A>G | ||
| ENST00000543739.5:n.649A>G | ||
| NM_002180.2:c.1532A>G , LRG_250t1:c.1532A>G | NP_002171.2:p.Asn511Ser | |
| XM_005273974.2:c.521A>G | XP_005274031.1:p.Asn174Ser | |
| XM_005273975.2:c.404A>G | XP_005274032.1:p.Asn135Ser | |
| XM_011544994.1:c.299A>G | XP_011543296.1:p.Asn100Ser | |
| XR_949903.1:n.1634A>G | ||
| XM_005273975.3:c.404A>G | XP_005274032.1:p.Asn135Ser | |
| XM_017017669.2:c.521A>G | XP_016873158.1:p.Asn174Ser | |
| XM_017017670.2:c.521A>G | XP_016873159.1:p.Asn174Ser | |
| XM_017017671.2:c.1532A>G | XP_016873160.1:p.Asn511Ser | |
| XR_949903.3:n.1630A>G | ||
| NM_002180.3:c.1532A>G MANE Select | NP_002171.2:p.Asn511Ser |