Linked Data
dbSNP Id:
rs765184360
ExAC:
11:67257876 G / A
gnomAD v2:
11-67257876-G-A
gnomAD v4:
11-67490405-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490405G>A , CM000673.2:g.67490405G>A | GRCh38 |
| NC_000011.9:g.67257876G>A , CM000673.1:g.67257876G>A | GRCh37 |
| NC_000011.8:g.67014452G>A | NCBI36 |
| NG_008969.1:g.12372G>A , LRG_460:g.12372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.712G>A | ||
| ENST00000528641.7:c.546G>A | ENSP00000434982.3:p.Glu182= | |
| ENST00000529797.2:n.1247G>A | ||
| ENST00000682324.1:c.469-592G>A | ENSP00000508017.1:n.469-592G>A | |
| ENST00000682659.1:c.366G>A | ENSP00000507351.1:p.Glu122= | |
| ENST00000682699.1:c.735G>A | ENSP00000507935.1:p.Glu245= | |
| ENST00000683237.1:c.735G>A | ENSP00000507343.1:p.Glu245= | |
| ENST00000683856.1:c.558G>A | ENSP00000507979.1:p.Glu186= | |
| ENST00000684006.1:c.735G>A | ENSP00000507269.1:p.Glu245= | |
| ENST00000684657.1:c.555G>A | ENSP00000507961.1:p.Glu185= | |
| ENST00000279146.8:c.735G>A MANE Select | ENSP00000279146.3:p.Glu245= | |
| ENST00000279146.7:c.735G>A | ENSP00000279146.3:p.Glu245= | |
| ENST00000525341.1:c.387G>A | ENSP00000476993.1:p.Glu129= | |
| ENST00000528641.6:c.546G>A | ENSP00000434982.2:p.Glu182= | |
| NM_001302959.1:c.558G>A | NP_001289888.1:p.Glu186= | |
| NM_001302960.1:c.735G>A | NP_001289889.1:p.Glu245= | |
| NM_003977.3:c.735G>A | NP_003968.3:p.Glu245= | |
| XM_024448761.1:c.735G>A | XP_024304529.1:p.Glu245= | |
| NM_003977.4:c.735G>A MANE Select | NP_003968.3:p.Glu245= | |
| NM_001302960.2:c.735G>A | NP_001289889.1:p.Glu245= | |
| NM_001302959.2:c.558G>A | NP_001289888.1:p.Glu186= |