Linked Data
ClinVar Variation Id:
4461
ClinVar RCV Id:
RCV000004715
RCV000004716
RCV000030650
RCV000190800
RCV000255732
RCV000477935
RCV000536747
RCV000779308
RCV001729335
RCV002247247
RCV003415652
dbSNP Id:
rs121908119
ExAC:
2:219747090 C / A
gnomAD v2:
2-219747090-C-A
gnomAD v3:
2-218882368-C-A
gnomAD v4:
2-218882368-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882368C>A , CM000664.2:g.218882368C>A | GRCh38 |
| NC_000002.11:g.219747090C>A , CM000664.1:g.219747090C>A | GRCh37 |
| NC_000002.10:g.219455334C>A | NCBI36 |
| NG_012179.1:g.6836C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258411.8:c.321C>A MANE Select | ENSP00000258411.3:p.Cys107Ter | |
| ENST00000258411.7:c.321C>A | ENSP00000258411.3:p.Cys107Ter | |
| ENST00000458582.1:c.208C>A | ||
| NM_025216.2:c.321C>A | NP_079492.2:p.Cys107Ter | |
| XM_011511928.1:c.270C>A | XP_011510230.1:p.Cys90Ter | |
| XM_011511929.1:c.225C>A | XP_011510231.1:p.Cys75Ter | |
| XM_011511930.1:c.321C>A | XP_011510232.1:p.Cys107Ter | |
| XM_011511929.2:c.225C>A | XP_011510231.1:p.Cys75Ter | |
| NM_025216.3:c.321C>A MANE Select | NP_079492.2:p.Cys107Ter |