Linked Data
ClinVar Variation Id:
48595
ClinVar RCV Id:
RCV000041921
RCV000669898
RCV001831706
RCV001852861
RCV003450899
RCV003389452
RCV003888408
dbSNP Id:
rs397518036
ExAC:
1:216500961 G / A
gnomAD v2:
1-216500961-G-A
gnomAD v4:
1-216327619-G-A
PubMed:
PMID:22004887
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216327619G>A , CM000663.2:g.216327619G>A | GRCh38 |
| NC_000001.10:g.216500961G>A , CM000663.1:g.216500961G>A | GRCh37 |
| NC_000001.9:g.214567584G>A | NCBI36 |
| NG_009497.1:g.100778C>T | |
| NG_009497.2:g.100830C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.820C>T MANE Select | ENSP00000305941.3:p.Arg274Ter | |
| ENST00000674083.1:c.820C>T | ENSP00000501296.1:p.Arg274Ter | |
| ENST00000307340.7:c.820C>T | ENSP00000305941.3:p.Arg274Ter | |
| ENST00000366942.3:c.820C>T | ENSP00000355909.3:p.Arg274Ter | |
| NM_007123.5:c.820C>T | NP_009054.5:p.Arg274Ter | |
| NM_206933.2:c.820C>T | NP_996816.2:p.Arg274Ter | |
| NM_206933.3:c.820C>T | NP_996816.2:p.Arg274Ter | |
| NM_007123.6:c.820C>T | NP_009054.6:p.Arg274Ter | |
| NM_206933.4:c.820C>T MANE Select | NP_996816.3:p.Arg274Ter |