Linked Data
ClinVar Variation Id:
2366
ClinVar RCV Id:
RCV001216451
dbSNP Id:
rs74315324
ExAC:
1:145416631 C / T
gnomAD v2:
1-145416631-C-T
gnomAD v3:
1-146018382-G-A
gnomAD v4:
1-146018382-G-A
COSMIC:
COSM1600703
PubMed:
PMID:14647275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146018382G>A , CM000663.2:g.146018382G>A | GRCh38 |
| NC_000001.10:g.145416631C>T , CM000663.1:g.145416631C>T | GRCh37 |
| NC_000001.9:g.144127988C>T | NCBI36 |
| NG_011568.1:g.8441C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336751.11:c.976C>T MANE Select | ENSP00000337014.5:p.Arg326Ter | |
| ENST00000636675.1:c.298C>T | ENSP00000490072.1:p.Arg100Ter | |
| ENST00000336751.10:c.976C>T | ENSP00000337014.5:p.Arg326Ter | |
| ENST00000357836.5:c.637C>T | ENSP00000350495.5:p.Arg213Ter | |
| ENST00000475797.1:c.298C>T | ENSP00000425716.1:p.Arg100Ter | |
| ENST00000497365.5:c.298C>T | ENSP00000421820.1:p.Arg100Ter | |
| NM_001316767.1:c.298C>T | NP_001303696.1:p.Arg100Ter | |
| NM_145277.4:c.637C>T | NP_660320.3:p.Arg213Ter | |
| NM_202004.3:c.298C>T | NP_973733.1:p.Arg100Ter | |
| NM_213652.3:c.298C>T | NP_998817.1:p.Arg100Ter | |
| NM_213653.3:c.976C>T | NP_998818.1:p.Arg326Ter | |
| XM_005272932.1:c.976C>T | XP_005272989.1:p.Arg326Ter | |
| NM_001316767.2:c.298C>T | NP_001303696.1:p.Arg100Ter | |
| NM_145277.5:c.637C>T | NP_660320.3:p.Arg213Ter | |
| NM_202004.4:c.298C>T | NP_973733.1:p.Arg100Ter | |
| NM_213652.4:c.298C>T | NP_998817.1:p.Arg100Ter | |
| NM_001379352.1:c.976C>T | NP_001366281.1:p.Arg326Ter | |
| NM_213653.4:c.976C>T MANE Select | NP_998818.1:p.Arg326Ter |