Linked Data
dbSNP Id:
rs202114011
ExAC:
11:67352651 T / C
gnomAD v2:
11-67352651-T-C
gnomAD v3:
11-67585180-T-C
gnomAD v4:
11-67585180-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585180T>C , CM000673.2:g.67585180T>C | GRCh38 |
| NC_000011.9:g.67352651T>C , CM000673.1:g.67352651T>C | GRCh37 |
| NC_000011.8:g.67109227T>C | NCBI36 |
| NG_012075.1:g.6586T>C , LRG_723:g.6586T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.275T>C | ENSP00000381604.1:p.Met92Thr | |
| ENST00000398606.10:c.275T>C MANE Select | ENSP00000381607.3:p.Met92Thr | |
| ENST00000646888.1:c.168T>C | ENSP00000494477.1:p.His56= | |
| ENST00000398603.5:c.275T>C | ENSP00000381604.1:p.Met92Thr | |
| ENST00000398606.7:c.275T>C | ENSP00000381607.3:p.Met92Thr | |
| ENST00000467591.1:n.386T>C | ||
| ENST00000494593.1:n.1070T>C | ||
| ENST00000498765.5:c.338T>C | ||
| NM_000852.3:c.275T>C , LRG_723t1:c.275T>C | NP_000843.1:p.Met92Thr | |
| NM_000852.4:c.275T>C MANE Select | NP_000843.1:p.Met92Thr |