Linked Data
ClinVar Variation Id:
4495
ClinVar RCV Id:
RCV000004752
dbSNP Id:
rs121908187
PubMed:
PMID:12192640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25812789T>G , CM000663.2:g.25812789T>G | GRCh38 |
| NC_000001.10:g.26139280T>G , CM000663.1:g.26139280T>G | GRCh37 |
| NC_000001.9:g.26011867T>G | NCBI36 |
| NG_009930.1:g.17614T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354177.9:c.1213T>G | ENSP00000346109.5:p.Ter405Gly | |
| ENST00000494537.2:c.1282T>G | ENSP00000508308.1:p.Ter428Gly | |
| ENST00000361547.7:c.1384T>G MANE Select | ENSP00000355141.2:p.Ter462Gly | |
| ENST00000354177.8:c.1274+8T>G | ENSP00000346109.4:n.1274+8T>G | |
| ENST00000361547.6:c.1384T>G | ENSP00000355141.2:p.Ter462Gly | |
| ENST00000374315.1:c.1282T>G | ENSP00000363434.1:p.Ter428Gly | |
| ENST00000494537.1:n.62T>G | ||
| ENST00000559265.1:n.255+910T>G | ||
| ENST00000630065.2:c.-189T>G | ENSP00000487549.1:n.-189T>G | |
| NM_020451.2:c.1384T>G | NP_065184.2:p.Ter462Gly | |
| NM_206926.1:c.1282T>G | NP_996809.1:p.Ter428Gly | |
| NM_020451.3:c.1384T>G MANE Select | NP_065184.2:p.Ter462Gly | |
| NM_206926.2:c.1282T>G | NP_996809.1:p.Ter428Gly |