Linked Data
ClinVar Variation Id:
569586
dbSNP Id:
rs753359659
ExAC:
4:88959641 G / A
gnomAD v2:
4-88959641-G-A
gnomAD v3:
4-88038489-G-A
gnomAD v4:
4-88038489-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88038489G>A , CM000666.2:g.88038489G>A | GRCh38 |
| NC_000004.11:g.88959641G>A , CM000666.1:g.88959641G>A | GRCh37 |
| NC_000004.10:g.89178665G>A | NCBI36 |
| NG_008604.1:g.35822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1082G>A MANE Select | ENSP00000237596.2:p.Arg361Gln | |
| ENST00000237596.6:c.1082G>A | ENSP00000237596.2:p.Arg361Gln | |
| ENST00000506367.1:n.529G>A | ||
| NM_000297.3:c.1082G>A | NP_000288.1:p.Arg361Gln | |
| XM_011532028.1:c.1082G>A | XP_011530330.1:p.Arg361Gln | |
| XM_011532029.1:c.362G>A | XP_011530331.1:p.Arg121Gln | |
| XM_011532030.1:c.242G>A | XP_011530332.1:p.Arg81Gln | |
| XR_244632.2:n.1177G>A | ||
| NR_156488.1:n.1169G>A | ||
| XM_011532028.2:c.1082G>A | XP_011530330.1:p.Arg361Gln | |
| XM_011532030.2:c.242G>A | XP_011530332.1:p.Arg81Gln | |
| NM_000297.4:c.1082G>A MANE Select | NP_000288.1:p.Arg361Gln | |
| NR_156488.2:n.1181G>A |