Linked Data
dbSNP Id:
rs771574833
ExAC:
10:102749567 A / G
gnomAD v2:
10-102749567-A-G
gnomAD v4:
10-100989810-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100989810A>G , CM000672.2:g.100989810A>G | GRCh38 |
| NC_000010.10:g.102749567A>G , CM000672.1:g.102749567A>G | GRCh37 |
| NC_000010.9:g.102739557A>G | NCBI36 |
| NG_011646.1:g.2706T>C | |
| NG_012624.1:g.7275A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.1410A>G MANE Select | ENSP00000309595.2:p.Lys470= | |
| ENST00000370228.2:c.1410A>G | ENSP00000359248.1:p.Lys470= | |
| ENST00000643860.1:c.1410A>G | ENSP00000494389.1:p.Lys470= | |
| ENST00000646226.1:n.225A>G | ||
| ENST00000647109.1:c.69A>G | ||
| ENST00000650396.1:c.371A>G | ||
| ENST00000311916.6:c.1410A>G | ENSP00000309595.2:p.Lys470= | |
| ENST00000370228.1:c.1410A>G | ENSP00000359248.1:p.Lys470= | |
| ENST00000459764.1:n.253A>G | ||
| ENST00000473656.5:n.231A>G | ||
| ENST00000476766.5:n.296A>G | ||
| NM_001163812.1:c.1410A>G | NP_001157284.1:p.Lys470= | |
| NM_001163813.1:c.48A>G | NP_001157285.1:p.Lys16= | |
| NM_001163814.1:c.48A>G | NP_001157286.1:p.Lys16= | |
| NM_021830.4:c.1410A>G | NP_068602.2:p.Lys470= | |
| XM_011539974.1:c.48A>G | XP_011538276.1:p.Lys16= | |
| XM_011539975.1:c.48A>G | XP_011538277.1:p.Lys16= | |
| XR_945788.1:n.2181A>G | ||
| XM_011539975.2:c.48A>G | XP_011538277.1:p.Lys16= | |
| XM_017016437.1:c.48A>G | XP_016871926.1:p.Lys16= | |
| XR_001747142.1:n.1584A>G | ||
| XR_001747144.1:n.1522A>G | ||
| XR_002956991.1:n.1522A>G | ||
| XR_945788.2:n.1522A>G | ||
| NM_021830.5:c.1410A>G MANE Select | NP_068602.2:p.Lys470= | |
| NM_001163812.2:c.1410A>G | NP_001157284.1:p.Lys470= | |
| NM_001163813.2:c.48A>G | NP_001157285.1:p.Lys16= | |
| NM_001163814.2:c.48A>G | NP_001157286.1:p.Lys16= | |
| NM_001368275.1:c.48A>G | NP_001355204.1:p.Lys16= | |
| NR_160738.1:n.2078A>G | ||
| NR_160739.1:n.238A>G | ||
| NR_160740.1:n.2016A>G | ||
| NR_160741.1:n.2016A>G | ||
| NR_160742.1:n.2016A>G |