Linked Data
ClinVar Variation Id:
2140524
dbSNP Id:
rs780383722
ExAC:
2:55912087 G / A
gnomAD v2:
2-55912087-G-A
gnomAD v3:
2-55684952-G-A
gnomAD v4:
2-55684952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55684952G>A , CM000664.2:g.55684952G>A | GRCh38 |
| NC_000002.11:g.55912087G>A , CM000664.1:g.55912087G>A | GRCh37 |
| NC_000002.10:g.55765591G>A | NCBI36 |
| NG_033012.1:g.13959C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000447944.7:c.394C>T MANE Select | ENSP00000400646.2:p.Arg132Ter | |
| ENST00000260604.8:c.394C>T | ENSP00000260604.4:p.Arg132Ter | |
| ENST00000415374.5:c.394C>T | ENSP00000393953.1:p.Arg132Ter | |
| ENST00000429805.1:c.*42C>T | ENSP00000411994.1:n.*42C>T | |
| ENST00000447944.6:c.394C>T | ENSP00000400646.2:p.Arg132Ter | |
| NM_033109.4:c.394C>T | NP_149100.2:p.Arg132Ter | |
| XM_005264629.1:c.154C>T | XP_005264686.1:p.Arg52Ter | |
| XM_011533142.1:c.394C>T | XP_011531444.1:p.Arg132Ter | |
| XM_005264629.2:c.154C>T | XP_005264686.1:p.Arg52Ter | |
| XM_017005172.1:c.154C>T | XP_016860661.1:p.Arg52Ter | |
| XR_001739010.1:n.424C>T | ||
| NM_033109.5:c.394C>T MANE Select | NP_149100.2:p.Arg132Ter |