Linked Data
ClinVar Variation Id:
1381275
ClinVar RCV Id:
RCV001895279
dbSNP Id:
rs759943002
ExAC:
6:144507964 A / G
gnomAD v2:
6-144507964-A-G
gnomAD v4:
6-144186827-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.144186827A>G , CM000668.2:g.144186827A>G | GRCh38 |
| NC_000006.11:g.144507964A>G , CM000668.1:g.144507964A>G | GRCh37 |
| NC_000006.10:g.144549657A>G | NCBI36 |
| NG_007613.1:g.41311A>G , LRG_113:g.41311A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698355.1:c.200A>G | ENSP00000513678.1:p.Lys67Arg | |
| ENST00000698356.1:c.200A>G | ENSP00000513679.1:p.Lys67Arg | |
| ENST00000698357.1:c.200A>G | ENSP00000513680.1:p.Lys67Arg | |
| ENST00000367568.5:c.200A>G MANE Select | ENSP00000356540.4:p.Lys67Arg | |
| ENST00000367568.4:c.200A>G | ENSP00000356540.4:p.Lys67Arg | |
| NM_003764.3:c.200A>G , LRG_113t1:c.200A>G | NP_003755.2:p.Lys67Arg | |
| XM_011536213.1:c.278A>G | XP_011534515.1:p.Lys93Arg | |
| XM_011536214.1:c.200A>G | XP_011534516.1:p.Lys67Arg | |
| XM_011536215.1:c.200A>G | XP_011534517.1:p.Lys67Arg | |
| XM_011536216.1:c.200A>G | XP_011534518.1:p.Lys67Arg | |
| XM_011536217.1:c.200A>G | XP_011534519.1:p.Lys67Arg | |
| XM_011536218.1:c.200A>G | XP_011534520.1:p.Lys67Arg | |
| XM_011536213.2:c.278A>G | XP_011534515.1:p.Lys93Arg | |
| XM_011536214.2:c.200A>G | XP_011534516.1:p.Lys67Arg | |
| XM_011536217.2:c.200A>G | XP_011534519.1:p.Lys67Arg | |
| XM_011536218.2:c.200A>G | XP_011534520.1:p.Lys67Arg | |
| XM_017011400.1:c.200A>G | XP_016866889.1:p.Lys67Arg | |
| NM_003764.4:c.200A>G MANE Select | NP_003755.2:p.Lys67Arg |