Linked Data
dbSNP Id:
rs768025328
ExAC:
5:56155627 C / T
gnomAD v2:
5-56155627-C-T
gnomAD v3:
5-56859800-C-T
gnomAD v4:
5-56859800-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56859800C>T , CM000667.2:g.56859800C>T | GRCh38 |
| NC_000005.9:g.56155627C>T , CM000667.1:g.56155627C>T | GRCh37 |
| NC_000005.8:g.56191384C>T | NCBI36 |
| NG_031884.1:g.49728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.719C>T MANE Select | ENSP00000382423.3:p.Ala240Val | |
| ENST00000399503.3:c.719C>T | ENSP00000382423.3:p.Ala240Val | |
| NM_005921.1:c.719C>T | NP_005912.1:p.Ala240Val | |
| XM_005248519.3:c.341C>T | XP_005248576.2:p.Ala114Val | |
| XM_011543406.1:c.464C>T | XP_011541708.1:p.Ala155Val | |
| XM_011543407.1:c.719C>T | XP_011541709.1:p.Ala240Val | |
| XM_011543408.1:c.719C>T | XP_011541710.1:p.Ala240Val | |
| XM_017009484.1:c.308C>T | XP_016864973.1:p.Ala103Val | |
| XM_017009485.1:c.230C>T | XP_016864974.1:p.Ala77Val | |
| XR_001742068.2:n.750C>T | ||
| NM_005921.2:c.719C>T MANE Select | NP_005912.1:p.Ala240Val |