Linked Data
dbSNP Id:
rs752318145
ExAC:
11:68704338 C / G
gnomAD v2:
11-68704338-C-G
gnomAD v4:
11-68936870-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936870C>G , CM000673.2:g.68936870C>G | GRCh38 |
| NC_000011.9:g.68704338C>G , CM000673.1:g.68704338C>G | GRCh37 |
| NC_000011.8:g.68460914C>G | NCBI36 |
| NG_007976.1:g.38020C>G , LRG_250:g.38020C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2390C>G MANE Select | ENSP00000255078.4:p.Ala797Gly | |
| ENST00000674675.1:c.587+47C>G | ||
| ENST00000674878.1:c.548-53C>G | ||
| ENST00000675118.1:c.1878C>G | ||
| ENST00000675389.1:n.665C>G | ||
| ENST00000675615.1:c.2390C>G | ENSP00000502413.1:p.Ala797Gly | |
| ENST00000675648.1:n.1765C>G | ||
| ENST00000675916.1:c.634C>G | ||
| ENST00000676173.1:n.3135C>G | ||
| ENST00000676182.1:c.821C>G | ||
| ENST00000676228.1:c.*1713C>G | ENSP00000502375.1:n.*1713C>G | |
| ENST00000255078.7:c.2390C>G | ENSP00000255078.3:p.Ala797Gly | |
| ENST00000539064.5:n.2149C>G | ||
| ENST00000543739.5:n.1383C>G | ||
| NM_002180.2:c.2390C>G , LRG_250t1:c.2390C>G | NP_002171.2:p.Ala797Gly | |
| XM_005273974.2:c.1379C>G | XP_005274031.1:p.Ala460Gly | |
| XM_005273975.2:c.1262C>G | XP_005274032.1:p.Ala421Gly | |
| XM_011544994.1:c.1157C>G | XP_011543296.1:p.Ala386Gly | |
| XR_949903.1:n.2492C>G | ||
| XM_005273975.3:c.1262C>G | XP_005274032.1:p.Ala421Gly | |
| XM_017017669.2:c.1379C>G | XP_016873158.1:p.Ala460Gly | |
| XM_017017670.2:c.1379C>G | XP_016873159.1:p.Ala460Gly | |
| XR_949903.3:n.2488C>G | ||
| NM_002180.3:c.2390C>G MANE Select | NP_002171.2:p.Ala797Gly |