Linked Data
ClinVar Variation Id:
5033
ClinVar RCV Id:
RCV000005336
dbSNP Id:
rs119485090
ExAC:
16:81388328 C / T
gnomAD v2:
16-81388328-C-T
gnomAD v3:
16-81354723-C-T
gnomAD v4:
16-81354723-C-T
PubMed:
PMID:11971098
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354723C>T , CM000678.2:g.81354723C>T | GRCh38 |
| NC_000016.9:g.81388328C>T , CM000678.1:g.81388328C>T | GRCh37 |
| NC_000016.8:g.79945829C>T | NCBI36 |
| NG_009007.1:g.44758C>T , LRG_242:g.44758C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648349.2:c.*309C>T | ENSP00000498114.1:n.*309C>T | |
| ENST00000648994.2:c.601C>T MANE Select | ENSP00000497351.1:p.Arg201Ter | |
| ENST00000650388.1:c.168-2062C>T | ENSP00000498081.1:n.168-2062C>T | |
| ENST00000674788.1:n.726C>T | ||
| ENST00000568107.2:c.601C>T | ENSP00000476795.1:p.Arg201Ter | |
| NM_022041.3:c.601C>T , LRG_242t1:c.601C>T | NP_071324.1:p.Arg201Ter | |
| XM_017023734.1:c.-39C>T | XP_016879223.1:n.-39C>T | |
| NM_001377486.1:c.-39C>T | NP_001364415.1:n.-39C>T | |
| NM_022041.4:c.601C>T MANE Select | NP_071324.1:p.Arg201Ter |