Linked Data
ClinVar Variation Id:
18189
ClinVar RCV Id:
RCV000019830
dbSNP Id:
rs77238412
PubMed:
PMID:3474609
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73408735C>G , CM000666.2:g.73408735C>G | GRCh38 |
| NC_000004.11:g.74274452C>G , CM000666.1:g.74274452C>G | GRCh37 |
| NC_000004.10:g.74493316C>G | NCBI36 |
| NG_009291.1:g.9481C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.412C>G MANE Select | ENSP00000295897.4:p.Arg138Gly | |
| ENST00000295897.8:c.412C>G | ENSP00000295897.4:p.Arg138Gly | |
| ENST00000401494.7:c.138-620C>G | ENSP00000384695.3:n.138-620C>G | |
| ENST00000415165.6:c.138-3261C>G | ENSP00000401820.2:n.138-3261C>G | |
| ENST00000441319.5:c.418C>G | ENSP00000392541.1:p.Arg140Gly | |
| ENST00000476441.6:c.80-620C>G | ENSP00000423727.1:n.80-620C>G | |
| ENST00000503124.5:c.33-620C>G | ENSP00000421027.1:n.33-620C>G | |
| ENST00000505649.5:n.98C>G | ||
| ENST00000509063.5:c.412C>G | ENSP00000422784.1:p.Arg138Gly | |
| ENST00000510166.5:n.448C>G | ||
| ENST00000514786.1:n.381C>G | ||
| ENST00000515133.5:n.453C>G | ||
| ENST00000621085.4:c.412C>G | ENSP00000483421.1:p.Arg138Gly | |
| ENST00000621628.4:c.412C>G | ENSP00000480485.1:p.Arg138Gly | |
| NM_000477.5:c.412C>G | NP_000468.1:p.Arg138Gly | |
| NM_000477.6:c.412C>G | NP_000468.1:p.Arg138Gly | |
| NM_000477.7:c.412C>G MANE Select | NP_000468.1:p.Arg138Gly |