Linked Data
dbSNP Id:
rs751725316
ExAC:
11:68701283 C / G
gnomAD v2:
11-68701283-C-G
gnomAD v4:
11-68933815-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933815C>G , CM000673.2:g.68933815C>G | GRCh38 |
| NC_000011.9:g.68701283C>G , CM000673.1:g.68701283C>G | GRCh37 |
| NC_000011.8:g.68457859C>G | NCBI36 |
| NG_007976.1:g.34965C>G , LRG_250:g.34965C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1439C>G MANE Select | ENSP00000255078.4:p.Ala480Gly | |
| ENST00000674955.1:c.*156C>G | ENSP00000502463.1:n.*156C>G | |
| ENST00000675118.1:c.927C>G | ||
| ENST00000675205.1:n.183+334C>G | ||
| ENST00000675615.1:c.1439C>G | ENSP00000502413.1:p.Ala480Gly | |
| ENST00000675648.1:n.814C>G | ||
| ENST00000675997.1:n.113-649C>G | ||
| ENST00000676173.1:n.2184C>G | ||
| ENST00000676228.1:c.*762C>G | ENSP00000502375.1:n.*762C>G | |
| ENST00000255078.7:c.1439C>G | ENSP00000255078.3:p.Ala480Gly | |
| ENST00000537458.5:n.556C>G | ||
| ENST00000539064.5:n.1198C>G | ||
| ENST00000541229.5:n.134C>G | ||
| ENST00000543739.5:n.556C>G | ||
| NM_002180.2:c.1439C>G , LRG_250t1:c.1439C>G | NP_002171.2:p.Ala480Gly | |
| XM_005273974.2:c.428C>G | XP_005274031.1:p.Ala143Gly | |
| XM_005273975.2:c.311C>G | XP_005274032.1:p.Ala104Gly | |
| XM_011544994.1:c.206C>G | XP_011543296.1:p.Ala69Gly | |
| XR_949903.1:n.1541C>G | ||
| XM_005273975.3:c.311C>G | XP_005274032.1:p.Ala104Gly | |
| XM_017017669.2:c.428C>G | XP_016873158.1:p.Ala143Gly | |
| XM_017017670.2:c.428C>G | XP_016873159.1:p.Ala143Gly | |
| XM_017017671.2:c.1439C>G | XP_016873160.1:p.Ala480Gly | |
| XR_949903.3:n.1537C>G | ||
| NM_002180.3:c.1439C>G MANE Select | NP_002171.2:p.Ala480Gly |