Linked Data
dbSNP Id:
rs944869466
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085260T>C , CM000666.2:g.186085260T>C | GRCh38 |
| NC_000004.11:g.187006414T>C , CM000666.1:g.187006414T>C | GRCh37 |
| NC_000004.10:g.187243408T>C | NCBI36 |
| NG_007278.1:g.21106T>C , LRG_117:g.21106T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*2654T>C | ENSP00000513675.1:n.*2654T>C | |
| ENST00000698353.1:n.2977T>C | ||
| ENST00000698354.1:c.*387T>C | ENSP00000513676.1:n.*387T>C | |
| ENST00000296795.8:c.*387T>C MANE Select | ENSP00000296795.3:n.*387T>C | |
| ENST00000296795.7:c.*387T>C | ENSP00000296795.2:n.*387T>C | |
| NM_003265.3:c.*387T>C MANE Select | NP_003256.1:n.*387T>C |