Linked Data
dbSNP Id:
rs1922539567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116173545T>A , CM000685.2:g.116173545T>A | GRCh38 |
| NC_000023.10:g.115304798T>A , CM000685.1:g.115304798T>A | GRCh37 |
| NC_000023.9:g.115218826T>A | NCBI36 |
| NG_016326.1:g.7841T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.*173T>A MANE Select | ENSP00000360973.4:n.*173T>A | |
| ENST00000371906.4:c.*173T>A | ENSP00000360973.4:n.*173T>A | |
| NM_000686.4:c.*173T>A | NP_000677.2:n.*173T>A | |
| XM_011537533.1:c.*173T>A | XP_011535835.1:n.*173T>A | |
| NM_000686.5:c.*173T>A MANE Select | NP_000677.2:n.*173T>A | |
| NM_001385624.1:c.*173T>A | NP_001372553.1:n.*173T>A |