Linked Data
ClinVar Variation Id:
2682449
ClinVar RCV Id:
RCV003479822
dbSNP Id:
rs1197944373
gnomAD v2:
1-196682884-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196713754T>G , CM000663.2:g.196713754T>G | GRCh38 |
| NC_000001.10:g.196682884T>G , CM000663.1:g.196682884T>G | GRCh37 |
| NC_000001.9:g.194949507T>G | NCBI36 |
| NG_007259.1:g.66744T>G , LRG_47:g.66744T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.1622T>G | ||
| ENST00000695969.1:c.1356T>G | ENSP00000512296.1:p.Ser452Arg | |
| ENST00000695970.1:c.1356T>G | ENSP00000512297.1:p.Ser452Arg | |
| ENST00000695971.1:c.1335T>G | ENSP00000512298.1:p.Ser445Arg | |
| ENST00000695972.1:c.1356T>G | ENSP00000512299.1:p.Ser452Arg | |
| ENST00000695973.1:c.1356T>G | ENSP00000512300.1:p.Ser452Arg | |
| ENST00000695974.1:c.1356T>G | ENSP00000512301.1:p.Ser452Arg | |
| ENST00000695975.1:c.1356T>G | ENSP00000512302.1:p.Ser452Arg | |
| ENST00000695976.1:c.1167T>G | ENSP00000512303.1:p.Ser389Arg | |
| ENST00000695981.1:c.1356T>G | ENSP00000512306.1:p.Ser452Arg | |
| ENST00000695983.1:c.1356T>G | ENSP00000512308.1:p.Ser452Arg | |
| ENST00000695984.1:c.245-14592T>G | ENSP00000512309.1:n.245-14592T>G | |
| ENST00000695986.1:c.*1007T>G | ENSP00000512311.1:n.*1007T>G | |
| ENST00000696024.1:n.1440T>G | ||
| ENST00000696025.1:n.1440T>G | ||
| ENST00000696026.1:c.1356T>G | ENSP00000512335.1:p.Ser452Arg | |
| ENST00000696027.1:c.1356T>G | ENSP00000512336.1:p.Ser452Arg | |
| ENST00000696028.1:c.1356T>G | ENSP00000512337.1:p.Ser452Arg | |
| ENST00000696029.1:c.1356T>G | ENSP00000512338.1:p.Ser452Arg | |
| ENST00000696031.1:c.*874T>G | ENSP00000512340.1:n.*874T>G | |
| ENST00000696032.1:c.1356T>G | ENSP00000512341.1:p.Ser452Arg | |
| ENST00000696033.1:c.1159+24140T>G | ENSP00000512342.1:n.1159+24140T>G | |
| ENST00000367429.9:c.1356T>G MANE Select | ENSP00000356399.4:p.Ser452Arg | |
| ENST00000367429.8:c.1356T>G | ENSP00000356399.4:p.Ser452Arg | |
| ENST00000466229.5:n.3372T>G | ||
| NM_000186.3:c.1356T>G , LRG_47t1:c.1356T>G | NP_000177.2:p.Ser452Arg | |
| XR_001737134.2:n.1441T>G | ||
| NM_000186.4:c.1356T>G MANE Select | NP_000177.2:p.Ser452Arg |