Linked Data
ClinVar Variation Id:
206537
ClinVar RCV Id:
RCV000188591
RCV000490261
RCV000633558
RCV000984890
RCV002247604
RCV001808469
RCV002282023
RCV002317145
RCV001847830
RCV003232987
RCV003992217
dbSNP Id:
rs201477273
ExAC:
15:89864088 G / A
gnomAD v2:
15-89864088-G-A
gnomAD v3:
15-89320857-G-A
gnomAD v4:
15-89320857-G-A
COSMIC:
COSM3420705
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89320857G>A , CM000677.2:g.89320857G>A | GRCh38 |
| NC_000015.9:g.89864088G>A , CM000677.1:g.89864088G>A | GRCh37 |
| NC_000015.8:g.87665092G>A | NCBI36 |
| NG_008218.1:g.18939C>T | |
| NG_008218.2:g.18939C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2890C>T | ENSP00000516154.1:p.Arg964Cys | |
| ENST00000268124.11:c.2890C>T MANE Select | ENSP00000268124.5:p.Arg964Cys | |
| ENST00000530292.3:c.2491C>T | ENSP00000432885.2:p.Arg831Cys | |
| ENST00000635986.2:c.2890C>T | ENSP00000490653.2:p.Arg964Cys | |
| ENST00000636774.1:c.*1457C>T | ENSP00000489799.1:n.*1457C>T | |
| ENST00000637238.1:c.1699C>T | ENSP00000490756.1:n.1699C>T | |
| ENST00000637264.1:c.1962C>T | ||
| ENST00000666746.1:c.2467C>T | ||
| ENST00000670281.1:c.800+1105C>T | ENSP00000499709.1:n.800+1105C>T | |
| ENST00000672071.1:n.3088C>T | ||
| ENST00000672695.1:n.67C>T | ||
| ENST00000672923.2:n.2832C>T | ||
| ENST00000268124.9:c.2890C>T | ENSP00000268124.5:p.Arg964Cys | |
| ENST00000442287.6:c.2890C>T | ENSP00000399851.2:p.Arg964Cys | |
| ENST00000528881.2:c.487C>T | ||
| ENST00000530715.5:c.198C>T | ENSP00000431395.1:p.Ser66= | |
| ENST00000631044.2:c.*2314C>T | ENSP00000486730.1:n.*2314C>T | |
| NM_001126131.1:c.2890C>T | NP_001119603.1:p.Arg964Cys | |
| NM_002693.2:c.2890C>T | NP_002684.1:p.Arg964Cys | |
| NM_001126131.2:c.2890C>T | NP_001119603.1:p.Arg964Cys | |
| NM_002693.3:c.2890C>T MANE Select | NP_002684.1:p.Arg964Cys |