Linked Data
ClinVar Variation Id:
440020
dbSNP Id:
rs76628300
ExAC:
1:43212930 G / C
gnomAD v2:
1-43212930-G-C
gnomAD v3:
1-42747259-G-C
gnomAD v4:
1-42747259-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42747259G>C , CM000663.2:g.42747259G>C | GRCh38 |
| NC_000001.10:g.43212930G>C , CM000663.1:g.43212930G>C | GRCh37 |
| NC_000001.9:g.42985517G>C | NCBI36 |
| NG_008123.1:g.24826C>G , LRG_5:g.24826C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.2055+13C>G MANE Select | ENSP00000296388.5:n.2055+13C>G | |
| ENST00000236040.8:c.2068C>G | ENSP00000236040.4:p.Arg690Gly | |
| ENST00000296388.9:c.2055+13C>G | ENSP00000296388.5:n.2055+13C>G | |
| ENST00000397054.7:c.2068C>G | ENSP00000380245.3:p.Arg690Gly | |
| ENST00000460031.5:n.2247+13C>G | ||
| ENST00000462474.5:n.230C>G | ||
| ENST00000472802.1:n.318C>G | ||
| ENST00000495874.5:n.2335+13C>G | ||
| NM_001146289.1:c.2068C>G , LRG_5t2:c.2068C>G | NP_001139761.1:p.Arg690Gly | |
| NM_001243246.1:c.2068C>G , LRG_5t3:c.2068C>G | NP_001230175.1:p.Arg690Gly | |
| NM_022356.3:c.2055+13C>G , LRG_5t1:c.2055+13C>G | NP_071751.3:n.2055+13C>G | |
| XM_005271110.2:c.1047+13C>G | XP_005271167.1:n.1047+13C>G | |
| XM_011541947.1:c.1080+13C>G | XP_011540249.1:n.1080+13C>G | |
| XM_011541948.1:c.1080+13C>G | XP_011540250.1:n.1080+13C>G | |
| XM_011541949.1:c.1077+13C>G | XP_011540251.1:n.1077+13C>G | |
| XM_017002051.2:c.1080+13C>G | XP_016857540.1:n.1080+13C>G | |
| XM_017002052.2:c.1077+13C>G | XP_016857541.1:n.1077+13C>G | |
| NM_022356.4:c.2055+13C>G MANE Select | NP_071751.3:n.2055+13C>G | |
| NM_001146289.2:c.2068C>G | NP_001139761.1:p.Arg690Gly | |
| NM_001243246.2:c.2068C>G | NP_001230175.1:p.Arg690Gly |