Linked Data
ClinVar Variation Id:
1363177
ClinVar RCV Id:
RCV001934789
dbSNP Id:
rs769038641
ExAC:
4:47408927 A / G
gnomAD v2:
4-47408927-A-G
gnomAD v3:
4-47406910-A-G
gnomAD v4:
4-47406910-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406910A>G , CM000666.2:g.47406910A>G | GRCh38 |
| NC_000004.11:g.47408927A>G , CM000666.1:g.47408927A>G | GRCh37 |
| NC_000004.10:g.47103684A>G | NCBI36 |
| NG_051831.1:g.380633A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.1064A>G MANE Select | ENSP00000295454.3:p.Glu355Gly | |
| ENST00000295454.7:c.1064A>G | ENSP00000295454.3:p.Glu355Gly | |
| NM_000812.3:c.1064A>G | NP_000803.2:p.Glu355Gly | |
| XM_011513678.1:c.1043A>G | XP_011511980.1:p.Glu348Gly | |
| XM_017007985.1:c.413A>G | XP_016863474.1:p.Glu138Gly | |
| XM_024453976.1:c.965A>G | XP_024309744.1:p.Glu322Gly | |
| XM_024453977.1:c.965A>G | XP_024309745.1:p.Glu322Gly | |
| XM_024453978.1:c.965A>G | XP_024309746.1:p.Glu322Gly | |
| NM_000812.4:c.1064A>G MANE Select | NP_000803.2:p.Glu355Gly |