Linked Data
ClinVar Variation Id:
2056496
ClinVar RCV Id:
RCV002947513
dbSNP Id:
rs1204079066
gnomAD v3:
6-144186818-G-A
gnomAD v4:
6-144186818-G-A
COSMIC:
COSM3621255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.144186818G>A , CM000668.2:g.144186818G>A | GRCh38 |
| NC_000006.11:g.144507955G>A , CM000668.1:g.144507955G>A | GRCh37 |
| NC_000006.10:g.144549648G>A | NCBI36 |
| NG_007613.1:g.41302G>A , LRG_113:g.41302G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698355.1:c.191G>A | ENSP00000513678.1:p.Arg64Gln | |
| ENST00000698356.1:c.191G>A | ENSP00000513679.1:p.Arg64Gln | |
| ENST00000698357.1:c.191G>A | ENSP00000513680.1:p.Arg64Gln | |
| ENST00000367568.5:c.191G>A MANE Select | ENSP00000356540.4:p.Arg64Gln | |
| ENST00000367568.4:c.191G>A | ENSP00000356540.4:p.Arg64Gln | |
| NM_003764.3:c.191G>A , LRG_113t1:c.191G>A | NP_003755.2:p.Arg64Gln | |
| XM_011536213.1:c.269G>A | XP_011534515.1:p.Arg90Gln | |
| XM_011536214.1:c.191G>A | XP_011534516.1:p.Arg64Gln | |
| XM_011536215.1:c.191G>A | XP_011534517.1:p.Arg64Gln | |
| XM_011536216.1:c.191G>A | XP_011534518.1:p.Arg64Gln | |
| XM_011536217.1:c.191G>A | XP_011534519.1:p.Arg64Gln | |
| XM_011536218.1:c.191G>A | XP_011534520.1:p.Arg64Gln | |
| XM_011536213.2:c.269G>A | XP_011534515.1:p.Arg90Gln | |
| XM_011536214.2:c.191G>A | XP_011534516.1:p.Arg64Gln | |
| XM_011536217.2:c.191G>A | XP_011534519.1:p.Arg64Gln | |
| XM_011536218.2:c.191G>A | XP_011534520.1:p.Arg64Gln | |
| XM_017011400.1:c.191G>A | XP_016866889.1:p.Arg64Gln | |
| NM_003764.4:c.191G>A MANE Select | NP_003755.2:p.Arg64Gln |