Linked Data
ClinVar Variation Id:
161454
ClinVar RCV Id:
RCV000148988
dbSNP Id:
rs672601312
ExAC:
1:949739 G / T
gnomAD v2:
1-949739-G-T
gnomAD v4:
1-1014359-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014359G>T , CM000663.2:g.1014359G>T | GRCh38 |
| NC_000001.10:g.949739G>T , CM000663.1:g.949739G>T | GRCh37 |
| NC_000001.9:g.939602G>T | NCBI36 |
| NG_033033.1:g.5893G>T | |
| NG_033033.2:g.18222G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.355G>T | ENSP00000485643.1:p.Glu119Ter | |
| ENST00000649529.1:c.379G>T MANE Select | ENSP00000496832.1:p.Glu127Ter | |
| ENST00000379389.4:c.379G>T | ENSP00000368699.4:p.Glu127Ter | |
| ENST00000624652.1:c.355G>T | ENSP00000485313.1:p.Glu119Ter | |
| ENST00000624697.3:c.355G>T | ENSP00000485643.1:p.Glu119Ter | |
| NM_005101.3:c.379G>T | NP_005092.1:p.Glu127Ter | |
| NM_005101.4:c.379G>T MANE Select | NP_005092.1:p.Glu127Ter |