Linked Data
ClinVar Variation Id:
2184431
ClinVar RCV Id:
RCV002603293
dbSNP Id:
rs770877156
ExAC:
1:43804368 G / A
gnomAD v2:
1-43804368-G-A
gnomAD v3:
1-43338697-G-A
gnomAD v4:
1-43338697-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338697G>A , CM000663.2:g.43338697G>A | GRCh38 |
| NC_000001.10:g.43804368G>A , CM000663.1:g.43804368G>A | GRCh37 |
| NC_000001.9:g.43576955G>A | NCBI36 |
| NG_007525.1:g.5894G>A , LRG_510:g.5894G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.368G>A MANE Select | ENSP00000361548.3:p.Arg123Gln | |
| ENST00000413998.7:c.347G>A | ENSP00000414004.3:p.Arg116Gln | |
| ENST00000638732.1:n.368G>A | ||
| ENST00000372470.7:c.368G>A | ENSP00000361548.3:p.Arg123Gln | |
| ENST00000413998.6:c.368G>A | ENSP00000414004.2:p.Arg123Gln | |
| ENST00000612993.1:c.368G>A | ENSP00000480273.1:p.Arg123Gln | |
| NM_005373.2:c.368G>A , LRG_510t1:c.368G>A | NP_005364.1:p.Arg123Gln | |
| XM_011541478.1:c.347G>A | XP_011539780.1:p.Arg116Gln | |
| XM_017001320.1:c.539G>A | XP_016856809.1:p.Arg180Gln | |
| NM_005373.3:c.368G>A MANE Select | NP_005364.1:p.Arg123Gln |