Linked Data
ClinVar Variation Id:
14796
ClinVar RCV Id:
RCV000015919
dbSNP Id:
rs121434588
PubMed:
PMID:9722161
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160070006G>A , CM000668.2:g.160070006G>A | GRCh38 |
| NC_000006.11:g.160491038G>A , CM000668.1:g.160491038G>A | GRCh37 |
| NC_000006.10:g.160411028G>A | NCBI36 |
| NG_011785.3:g.105908G>A | |
| NG_011785.4:g.105908G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356956.6:c.4391G>A MANE Select | ENSP00000349437.1:p.Gly1464Glu | |
| ENST00000650503.1:n.1001G>A | ||
| ENST00000676781.1:c.*2499G>A | ENSP00000504419.1:n.*2499G>A | |
| ENST00000677704.1:c.*262G>A | ENSP00000503314.1:n.*262G>A | |
| ENST00000356956.5:c.4391G>A | ENSP00000349437.1:p.Gly1464Glu | |
| NM_000876.2:c.4391G>A | NP_000867.2:p.Gly1464Glu | |
| XR_942419.1:n.4308G>A | ||
| NM_000876.3:c.4391G>A | NP_000867.2:p.Gly1464Glu | |
| NM_000876.4:c.4391G>A MANE Select | NP_000867.3:p.Gly1464Glu |