Linked Data
ClinVar Variation Id:
1776227
ClinVar RCV Id:
RCV002398744
dbSNP Id:
rs1422171625
gnomAD v2:
3-38793862-C-G
gnomAD v4:
3-38752371-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38752371C>G , CM000665.2:g.38752371C>G | GRCh38 |
| NC_000003.11:g.38793862C>G , CM000665.1:g.38793862C>G | GRCh37 |
| NC_000003.10:g.38768866C>G | NCBI36 |
| NG_031891.2:g.46640G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.1603G>C MANE Select | ENSP00000390600.2:p.Gly535Arg | |
| ENST00000643924.1:c.1603G>C | ENSP00000495595.1:p.Gly535Arg | |
| ENST00000655275.1:c.1630G>C | ENSP00000499510.1:p.Gly544Arg | |
| ENST00000449082.2:c.1603G>C | ENSP00000390600.2:p.Gly535Arg | |
| NM_001293306.2:c.1603G>C | NP_001280235.2:p.Gly535Arg | |
| NM_001293307.2:c.1462-2187G>C | NP_001280236.2:n.1462-2187G>C | |
| NM_006514.3:c.1603G>C | NP_006505.3:p.Gly535Arg | |
| XM_005265371.2:c.1612G>C | XP_005265428.1:p.Gly538Arg | |
| XM_011533993.1:c.1612G>C | XP_011532295.1:p.Gly538Arg | |
| XM_011533994.1:c.1471-2187G>C | XP_011532296.1:n.1471-2187G>C | |
| XM_005265371.3:c.1612G>C | XP_005265428.1:p.Gly538Arg | |
| XM_011533993.2:c.1612G>C | XP_011532295.1:p.Gly538Arg | |
| XM_011533994.2:c.1471-2187G>C | XP_011532296.1:n.1471-2187G>C | |
| NM_006514.4:c.1603G>C MANE Select | NP_006505.4:p.Gly535Arg |