Linked Data
dbSNP Id:
rs575192842
ExAC:
19:10226199 G / A
gnomAD v2:
19-10226199-G-A
gnomAD v3:
19-10115523-G-A
gnomAD v4:
19-10115523-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115523G>A , CM000681.2:g.10115523G>A | GRCh38 |
| NC_000019.9:g.10226199G>A , CM000681.1:g.10226199G>A | GRCh37 |
| NC_000019.8:g.10087199G>A | NCBI36 |
| NG_047007.1:g.9003G>A | |
| NG_051197.1:g.9402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.903C>T MANE Select | ENSP00000253108.3:p.Ser301= | |
| ENST00000253108.8:c.903C>T | ENSP00000253108.3:p.Ser301= | |
| ENST00000590158.1:n.922C>T | ||
| ENST00000593054.5:c.297C>T | ENSP00000467187.1:p.Ser99= | |
| NM_003755.3:c.903C>T | NP_003746.2:p.Ser301= | |
| NM_003755.4:c.903C>T | NP_003746.2:p.Ser301= | |
| NM_003755.5:c.903C>T MANE Select | NP_003746.2:p.Ser301= |