Linked Data
ClinVar Variation Id:
9438
ClinVar RCV Id:
RCV000010045
dbSNP Id:
rs397514451
gnomAD v4:
17-50168398-A-G
PubMed:
PMID:7657792
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50168398A>G , CM000679.2:g.50168398A>G | GRCh38 |
| NC_000017.10:g.48245759A>G , CM000679.1:g.48245759A>G | GRCh37 |
| NC_000017.9:g.45600758A>G | NCBI36 |
| NG_008889.1:g.7394A>G , LRG_203:g.7394A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504073.2:c.410A>G | ENSP00000422030.2:p.Glu137Gly | |
| ENST00000511303.6:n.135A>G | ||
| ENST00000512526.2:c.401A>G | ENSP00000426606.2:n.401A>G | |
| ENST00000682109.1:c.290A>G | ENSP00000508041.1:p.Glu97Gly | |
| ENST00000683226.1:n.120A>G | ||
| ENST00000683294.1:c.410A>G | ENSP00000508134.1:p.Glu137Gly | |
| ENST00000262018.8:c.410A>G MANE Select | ENSP00000262018.3:p.Glu137Gly | |
| ENST00000262018.7:c.410A>G | ENSP00000262018.3:p.Glu137Gly | |
| ENST00000344627.10:c.410A>G | ENSP00000345522.6:p.Glu137Gly | |
| ENST00000502555.5:c.*69A>G | ENSP00000422817.1:n.*69A>G | |
| ENST00000511303.5:c.131A>G | ENSP00000426104.1:p.Glu44Gly | |
| ENST00000512526.1:c.245A>G | ||
| ENST00000513821.5:c.410A>G | ENSP00000426571.1:p.Glu137Gly | |
| ENST00000513942.5:n.201A>G | ||
| ENST00000514934.1:c.*116A>G | ENSP00000423168.1:n.*116A>G | |
| NM_000023.2:c.410A>G , LRG_203t1:c.410A>G | NP_000014.1:p.Glu137Gly | |
| NM_001135697.1:c.410A>G | NP_001129169.1:p.Glu137Gly | |
| XM_011525120.1:c.410A>G | XP_011523422.1:p.Glu137Gly | |
| XM_011525121.1:c.410A>G | XP_011523423.1:p.Glu137Gly | |
| XM_011525122.1:c.410A>G | XP_011523424.1:p.Glu137Gly | |
| XM_011525123.1:c.410A>G | XP_011523425.1:p.Glu137Gly | |
| XM_011525124.1:c.104A>G | XP_011523426.1:p.Glu35Gly | |
| XR_934517.1:n.476A>G | ||
| NM_000023.3:c.410A>G | NP_000014.1:p.Glu137Gly | |
| NM_001135697.2:c.410A>G | NP_001129169.1:p.Glu137Gly | |
| NR_135553.1:n.466A>G | ||
| XM_011525120.2:c.572A>G | XP_011523422.2:p.Glu191Gly | |
| XM_011525121.2:c.572A>G | XP_011523423.2:p.Glu191Gly | |
| XM_011525122.2:c.572A>G | XP_011523424.2:p.Glu191Gly | |
| XM_011525123.2:c.572A>G | XP_011523425.2:p.Glu191Gly | |
| XM_011525124.2:c.104A>G | XP_011523426.1:p.Glu35Gly | |
| XM_024450873.1:c.104A>G | XP_024306641.1:p.Glu35Gly | |
| XR_002958056.1:n.928A>G | ||
| NM_000023.4:c.410A>G MANE Select | NP_000014.1:p.Glu137Gly | |
| NM_001135697.3:c.410A>G | NP_001129169.1:p.Glu137Gly | |
| NR_135553.2:n.446A>G |