Linked Data
dbSNP Id:
rs777261816
ExAC:
11:67353868 C / T
gnomAD v2:
11-67353868-C-T
gnomAD v3:
11-67586397-C-T
gnomAD v4:
11-67586397-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586397C>T , CM000673.2:g.67586397C>T | GRCh38 |
| NC_000011.9:g.67353868C>T , CM000673.1:g.67353868C>T | GRCh37 |
| NC_000011.8:g.67110444C>T | NCBI36 |
| NG_012075.1:g.7803C>T , LRG_723:g.7803C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.345C>T | ENSP00000381604.1:p.Phe115= | |
| ENST00000398606.10:c.453C>T MANE Select | ENSP00000381607.3:p.Phe151= | |
| ENST00000646888.1:c.*169C>T | ENSP00000494477.1:n.*169C>T | |
| ENST00000398603.5:c.345C>T | ENSP00000381604.1:p.Phe115= | |
| ENST00000398606.7:c.453C>T | ENSP00000381607.3:p.Phe151= | |
| ENST00000467591.1:n.564C>T | ||
| ENST00000494593.1:n.1425C>T | ||
| ENST00000495996.1:c.179C>T | ENSP00000484686.1:p.Ser60Leu | |
| ENST00000498765.5:c.516C>T | ||
| NM_000852.3:c.453C>T , LRG_723t1:c.453C>T | NP_000843.1:p.Phe151= | |
| NM_000852.4:c.453C>T MANE Select | NP_000843.1:p.Phe151= |