Linked Data
ClinVar Variation Id:
2020520
ClinVar RCV Id:
RCV003763999
MyVariant Identifiers:
chr9:g.377087G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.377087G>A , CM000671.2:g.377087G>A | GRCh38 |
| NC_000009.11:g.377087G>A , CM000671.1:g.377087G>A | GRCh37 |
| NC_000009.10:g.367087G>A | NCBI36 |
| NG_017007.1:g.167223G>A , LRG_196:g.167223G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.2112G>A | ENSP00000371766.2:p.Glu704= | |
| ENST00000382331.6:n.813G>A | ||
| ENST00000483757.6:c.*1003G>A | ENSP00000417691.2:n.*1003G>A | |
| ENST00000682260.1:n.2212G>A | ||
| ENST00000685949.1:n.1104G>A | ||
| ENST00000432829.7:c.2316G>A MANE Select | ENSP00000394888.3:p.Glu772= | |
| ENST00000382329.1:c.717G>A | ENSP00000371766.1:p.Glu239= | |
| ENST00000382331.5:c.222G>A | ENSP00000371768.1:p.Glu74= | |
| ENST00000432829.6:c.2316G>A | ENSP00000394888.3:p.Glu772= | |
| ENST00000453981.5:c.2112G>A | ENSP00000408464.2:p.Glu704= | |
| ENST00000469391.5:c.2112G>A | ENSP00000419438.1:p.Glu704= | |
| ENST00000483757.5:c.*1791G>A | ENSP00000417691.1:n.*1791G>A | |
| ENST00000495184.5:n.4271G>A | ||
| NM_001190458.1:c.2112G>A | NP_001177387.1:p.Glu704= | |
| NM_001193536.1:c.2112G>A | NP_001180465.1:p.Glu704= | |
| NM_203447.3:c.2316G>A , LRG_196t1:c.2316G>A | NP_982272.2:p.Glu772= | |
| XM_011518045.1:c.2112G>A | XP_011516347.1:p.Glu704= | |
| XM_011518046.1:c.2178G>A | XP_011516348.1:p.Glu726= | |
| XM_011518047.1:c.2112G>A | XP_011516349.1:p.Glu704= | |
| XM_011518048.1:c.2112G>A | XP_011516350.1:p.Glu704= | |
| XM_011518049.1:c.552G>A | XP_011516351.1:p.Glu184= | |
| XM_011518045.3:c.2112G>A | XP_011516347.1:p.Glu704= | |
| XM_011518046.2:c.2178G>A | XP_011516348.1:p.Glu726= | |
| XM_011518047.3:c.2112G>A | XP_011516349.1:p.Glu704= | |
| XM_011518048.2:c.2112G>A | XP_011516350.1:p.Glu704= | |
| XM_011518049.2:c.552G>A | XP_011516351.1:p.Glu184= | |
| XM_017015173.1:c.2112G>A | XP_016870662.1:p.Glu704= | |
| XM_017015174.1:c.2178G>A | XP_016870663.1:p.Glu726= | |
| NM_001190458.2:c.2112G>A | NP_001177387.1:p.Glu704= | |
| NM_001193536.2:c.2112G>A | NP_001180465.1:p.Glu704= | |
| NM_203447.4:c.2316G>A MANE Select | NP_982272.2:p.Glu772= |