Linked Data
dbSNP Id:
rs775048974
ExAC:
12:65563891 C / T
gnomAD v2:
12-65563891-C-T
gnomAD v3:
12-65170111-C-T
gnomAD v4:
12-65170111-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170111C>T , CM000674.2:g.65170111C>T | GRCh38 |
| NC_000012.11:g.65563891C>T , CM000674.1:g.65563891C>T | GRCh37 |
| NC_000012.10:g.63850158C>T | NCBI36 |
| NG_016210.1:g.5541C>T | |
| NG_016210.2:g.5541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.515C>T MANE Select | ENSP00000308369.2:p.Ala172Val | |
| ENST00000308330.2:c.515C>T | ENSP00000308369.2:p.Ala172Val | |
| ENST00000541171.1:n.529C>T | ||
| NM_001167614.1:c.515C>T | NP_001161086.1:p.Ala172Val | |
| NM_014319.4:c.515C>T | NP_055134.2:p.Ala172Val | |
| NM_014319.5:c.515C>T MANE Select | NP_055134.2:p.Ala172Val | |
| NM_001167614.2:c.515C>T | NP_001161086.1:p.Ala172Val |