Linked Data
ClinVar Variation Id:
4092
ClinVar RCV Id:
RCV000004310
RCV000023568
RCV000175526
RCV000412934
RCV000411745
RCV000590163
RCV000690242
RCV000779467
RCV001030754
dbSNP Id:
rs104893919
ExAC:
5:149357747 C / T
gnomAD v2:
5-149357747-C-T
gnomAD v3:
5-149978184-C-T
gnomAD v4:
5-149978184-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978184C>T , CM000667.2:g.149978184C>T | GRCh38 |
| NC_000005.9:g.149357747C>T , CM000667.1:g.149357747C>T | GRCh37 |
| NC_000005.8:g.149337940C>T | NCBI36 |
| NG_007147.2:g.19302C>T , LRG_684:g.19302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.764C>T | ||
| ENST00000286298.5:c.532C>T MANE Select | ENSP00000286298.4:p.Arg178Ter | |
| ENST00000286298.4:c.532C>T | ENSP00000286298.4:p.Arg178Ter | |
| ENST00000503336.1:c.205C>T | ENSP00000426053.1:p.Arg69Ter | |
| NM_000112.3:c.532C>T , LRG_684t1:c.532C>T | NP_000103.2:p.Arg178Ter | |
| XM_017009191.2:c.532C>T | XP_016864680.1:p.Arg178Ter | |
| NM_000112.4:c.532C>T MANE Select | NP_000103.2:p.Arg178Ter |