Linked Data
ClinVar Variation Id:
1521109
ClinVar RCV Id:
RCV002046235
dbSNP Id:
rs371910473
ExAC:
5:89923158 G / T
gnomAD v2:
5-89923158-G-T
gnomAD v3:
5-90627341-G-T
gnomAD v4:
5-90627341-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90627341G>T , CM000667.2:g.90627341G>T | GRCh38 |
| NC_000005.9:g.89923158G>T , CM000667.1:g.89923158G>T | GRCh37 |
| NC_000005.8:g.89958914G>T | NCBI36 |
| NG_007083.1:g.73542G>T | |
| NG_007083.2:g.102998G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.803G>T MANE Select | ENSP00000384582.2:p.Ser268Ile | |
| ENST00000640083.1:n.508G>T | ||
| ENST00000640109.1:n.899G>T | ||
| ENST00000640281.1:n.862G>T | ||
| ENST00000405460.6:c.803G>T | ENSP00000384582.2:p.Ser268Ile | |
| NM_032119.3:c.803G>T | NP_115495.3:p.Ser268Ile | |
| NR_003149.1:n.899G>T | ||
| XM_011543675.1:c.803G>T | XP_011541977.1:p.Ser268Ile | |
| XM_011543676.1:c.803G>T | XP_011541978.1:p.Ser268Ile | |
| XM_011543678.1:c.803G>T | XP_011541980.1:p.Ser268Ile | |
| XM_011543679.1:c.803G>T | XP_011541981.1:p.Ser268Ile | |
| NM_032119.4:c.803G>T MANE Select | NP_115495.3:p.Ser268Ile | |
| XM_017009963.2:c.803G>T | XP_016865452.1:p.Ser268Ile | |
| XM_017009964.2:c.803G>T | XP_016865453.1:p.Ser268Ile | |
| XM_017009965.1:c.800G>T | XP_016865454.1:p.Ser267Ile | |
| XM_017009966.2:c.803G>T | XP_016865455.1:p.Ser268Ile | |
| XM_017009967.1:c.707G>T | XP_016865456.1:p.Ser236Ile | |
| XM_017009968.2:c.803G>T | XP_016865457.1:p.Ser268Ile | |
| XM_017009969.2:c.803G>T | XP_016865458.1:p.Ser268Ile | |
| XM_017009970.2:c.803G>T | XP_016865459.1:p.Ser268Ile | |
| XM_017009971.2:c.803G>T | XP_016865460.1:p.Ser268Ile | |
| XM_017009974.2:c.803G>T | XP_016865463.1:p.Ser268Ile | |
| NR_003149.2:n.902G>T |