Linked Data
ClinVar Variation Id:
375739
ClinVar RCV Id:
RCV000417212
dbSNP Id:
rs1057519634
gnomAD v4:
7-40001930-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40001930G>A , CM000669.2:g.40001930G>A | GRCh38 |
| NC_000007.13:g.40041529G>A , CM000669.1:g.40041529G>A | GRCh37 |
| NC_000007.12:g.40008054G>A | NCBI36 |
| NG_052965.1:g.56571G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000181839.10:c.2252G>A MANE Select | ENSP00000181839.4:p.Arg751Gln | |
| ENST00000340829.10:c.2252G>A | ENSP00000340557.5:p.Arg751Gln | |
| ENST00000484589.2:c.804G>A | ||
| ENST00000642213.1:n.734G>A | ||
| ENST00000643859.1:c.1143G>A | ||
| ENST00000643915.1:c.566G>A | ENSP00000496187.1:p.Arg189Gln | |
| ENST00000645470.1:c.182G>A | ENSP00000495036.1:p.Arg61Gln | |
| ENST00000646039.1:c.1592G>A | ENSP00000494168.1:p.Arg531Gln | |
| ENST00000647453.1:n.1321G>A | ||
| ENST00000647518.1:n.4089G>A | ||
| ENST00000181839.8:c.2252G>A | ENSP00000181839.4:p.Arg751Gln | |
| ENST00000340829.9:c.2252G>A | ENSP00000340557.5:p.Arg751Gln | |
| ENST00000484589.1:n.804G>A | ||
| ENST00000611390.1:c.410G>A | ENSP00000484610.1:p.Arg137Gln | |
| ENST00000613626.4:c.410G>A | ENSP00000480835.1:p.Arg137Gln | |
| NM_003718.4:c.2252G>A | NP_003709.3:p.Arg751Gln | |
| NM_031267.3:c.2252G>A | NP_112557.2:p.Arg751Gln | |
| XM_011515597.1:c.2252G>A | XP_011513899.1:p.Arg751Gln | |
| XM_011515598.1:c.2252G>A | XP_011513900.1:p.Arg751Gln | |
| XM_011515597.3:c.2252G>A | XP_011513899.1:p.Arg751Gln | |
| XM_017012750.2:c.2252G>A | XP_016868239.1:p.Arg751Gln | |
| XM_017012751.2:c.2252G>A | XP_016868240.1:p.Arg751Gln | |
| NM_003718.5:c.2252G>A MANE Select | NP_003709.3:p.Arg751Gln |