Linked Data
ClinVar Variation Id:
365647
dbSNP Id:
rs141816448
ExAC:
9:136508597 C / T
gnomAD v2:
9-136508597-C-T
gnomAD v3:
9-133643475-C-T
gnomAD v4:
9-133643475-C-T
COSMIC:
COSM204578
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133643475C>T , CM000671.2:g.133643475C>T | GRCh38 |
| NC_000009.11:g.136508597C>T , CM000671.1:g.136508597C>T | GRCh37 |
| NC_000009.10:g.135498418C>T | NCBI36 |
| NG_008645.1:g.12113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263611.3:c.654C>T | ENSP00000263611.3:p.Cys218= | |
| ENST00000393056.8:c.807C>T MANE Select | ENSP00000376776.2:p.Cys269= | |
| ENST00000263611.2:c.618C>T | ENSP00000263611.2:p.Cys206= | |
| ENST00000393056.6:c.807C>T | ENSP00000376776.2:p.Cys269= | |
| NM_000787.3:c.807C>T | NP_000778.3:p.Cys269= | |
| NM_000787.4:c.807C>T MANE Select | NP_000778.3:p.Cys269= |