Linked Data
dbSNP Id:
rs200018958
ExAC:
4:52894168 T / A
gnomAD v2:
4-52894168-T-A
gnomAD v4:
4-52028002-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028002T>A , CM000666.2:g.52028002T>A | GRCh38 |
| NC_000004.11:g.52894168T>A , CM000666.1:g.52894168T>A | GRCh37 |
| NC_000004.10:g.52588925T>A | NCBI36 |
| NG_008891.1:g.15318A>T , LRG_204:g.15318A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.719A>T MANE Select | ENSP00000370839.6:p.Glu240Val | |
| ENST00000381431.9:c.719A>T | ENSP00000370839.5:p.Glu240Val | |
| NM_000232.4:c.719A>T , LRG_204t1:c.719A>T | NP_000223.1:p.Glu240Val | |
| XM_006714049.2:c.422A>T | XP_006714112.1:p.Glu141Val | |
| XM_011534403.1:c.509A>T | XP_011532705.1:p.Glu170Val | |
| XM_011534404.1:c.422A>T | XP_011532706.1:p.Glu141Val | |
| NM_000232.5:c.719A>T MANE Select | NP_000223.1:p.Glu240Val |