Linked Data
dbSNP Id:
rs765205157
ExAC:
19:48922855 A / C
gnomAD v2:
19-48922855-A-C
gnomAD v4:
19-48419598-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48419598A>C , CM000681.2:g.48419598A>C | GRCh38 |
| NC_000019.9:g.48922855A>C , CM000681.1:g.48922855A>C | GRCh37 |
| NC_000019.8:g.53614667A>C | NCBI36 |
| NG_052829.1:g.29724A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263269.4:c.1875A>C MANE Select | ENSP00000263269.2:p.Ser625= | |
| ENST00000263269.3:c.1875A>C | ENSP00000263269.2:p.Ser625= | |
| NM_000836.2:c.1875A>C | NP_000827.2:p.Ser625= | |
| XM_011526872.1:c.1875A>C | XP_011525174.1:p.Ser625= | |
| NM_000836.4:c.1875A>C MANE Select | NP_000827.2:p.Ser625= |