Linked Data
ClinVar Variation Id:
286223
dbSNP Id:
rs757115090
ExAC:
4:52894974 G / A
gnomAD v2:
4-52894974-G-A
gnomAD v4:
4-52028808-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028808G>A , CM000666.2:g.52028808G>A | GRCh38 |
| NC_000004.11:g.52894974G>A , CM000666.1:g.52894974G>A | GRCh37 |
| NC_000004.10:g.52589731G>A | NCBI36 |
| NG_008891.1:g.14512C>T , LRG_204:g.14512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.543C>T MANE Select | ENSP00000370839.6:p.Ser181= | |
| ENST00000381431.9:c.543C>T | ENSP00000370839.5:p.Ser181= | |
| ENST00000506357.5:c.626C>T | ||
| NM_000232.4:c.543C>T , LRG_204t1:c.543C>T | NP_000223.1:p.Ser181= | |
| XM_006714049.2:c.246C>T | XP_006714112.1:p.Ser82= | |
| XM_011534403.1:c.333C>T | XP_011532705.1:p.Ser111= | |
| XM_011534404.1:c.246C>T | XP_011532706.1:p.Ser82= | |
| NM_000232.5:c.543C>T MANE Select | NP_000223.1:p.Ser181= |