Linked Data
ClinVar Variation Id:
784456
dbSNP Id:
rs28363014
ExAC:
2:75104329 G / A
gnomAD v2:
2-75104329-G-A
gnomAD v3:
2-74877202-G-A
gnomAD v4:
2-74877202-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74877202G>A , CM000664.2:g.74877202G>A | GRCh38 |
| NC_000002.11:g.75104329G>A , CM000664.1:g.75104329G>A | GRCh37 |
| NC_000002.10:g.74957837G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290573.7:c.912G>A MANE Select | ENSP00000290573.2:p.Glu304= | |
| ENST00000290573.6:c.912G>A | ENSP00000290573.2:p.Glu304= | |
| ENST00000409174.1:c.828G>A | ENSP00000387140.1:p.Glu276= | |
| NM_000189.4:c.912G>A | NP_000180.2:p.Glu304= | |
| XM_005264280.1:c.912G>A | XP_005264337.1:p.Glu304= | |
| XM_011532807.1:c.816G>A | XP_011531109.1:p.Glu272= | |
| XM_005264280.2:c.912G>A | XP_005264337.1:p.Glu304= | |
| XM_011532807.2:c.816G>A | XP_011531109.1:p.Glu272= | |
| XM_017003945.2:c.816G>A | XP_016859434.1:p.Glu272= | |
| NM_000189.5:c.912G>A MANE Select | NP_000180.2:p.Glu304= | |
| NM_001371525.1:c.828G>A | NP_001358454.1:p.Glu276= |