Linked Data
dbSNP Id:
rs1570311780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063761A>C , CM000663.2:g.55063761A>C | GRCh38 |
| NC_000001.10:g.55529434A>C , CM000663.1:g.55529434A>C | GRCh37 |
| NC_000001.9:g.55302022A>C | NCBI36 |
| NG_009061.1:g.29215A>C , LRG_275:g.29215A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*596A>C | ENSP00000501161.2:n.*596A>C | |
| ENST00000710286.1:c.*177A>C | ENSP00000518176.1:n.*177A>C | |
| ENST00000673903.1:c.*177A>C | ENSP00000501257.1:n.*177A>C | |
| ENST00000302118.5:c.*177A>C MANE Select | ENSP00000303208.5:n.*177A>C | |
| ENST00000490692.1:n.2802A>C | ||
| NM_174936.3:c.*177A>C , LRG_275t1:c.*177A>C | NP_777596.2:n.*177A>C | |
| NR_110451.1:n.1863A>C | ||
| XM_011541193.1:c.*177A>C | XP_011539495.1:n.*177A>C | |
| NM_174936.4:c.*177A>C MANE Select | NP_777596.2:n.*177A>C | |
| NR_110451.2:n.1863A>C |