Linked Data
dbSNP Id:
rs1392656296
gnomAD v2:
4-25158379-C-A
gnomAD v3:
4-25156757-C-A
gnomAD v4:
4-25156757-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156757C>A , CM000666.2:g.25156757C>A | GRCh38 |
| NC_000004.11:g.25158379C>A , CM000666.1:g.25158379C>A | GRCh37 |
| NC_000004.10:g.24767477C>A | NCBI36 |
| NG_028222.1:g.8826G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382103.7:c.388+99G>T MANE Select | ENSP00000371535.2:n.388+99G>T | |
| ENST00000680581.1:c.388+99G>T | ENSP00000506483.1:n.388+99G>T | |
| ENST00000680824.1:n.1604+99G>T | ||
| ENST00000681071.1:n.680+99G>T | ||
| ENST00000681166.1:n.1435+99G>T | ||
| ENST00000681341.1:n.1529+99G>T | ||
| ENST00000681640.1:n.482+99G>T | ||
| ENST00000681948.1:c.643+99G>T | ENSP00000505991.1:n.643+99G>T | |
| ENST00000358971.7:c.*186+99G>T | ENSP00000351857.3:n.*186+99G>T | |
| ENST00000382103.6:c.388+99G>T | ENSP00000371535.2:n.388+99G>T | |
| ENST00000514585.5:c.*89+99G>T | ENSP00000421880.1:n.*89+99G>T | |
| NM_016955.3:c.388+99G>T | NP_058651.3:n.388+99G>T | |
| XM_005248168.2:c.151+99G>T | XP_005248225.1:n.151+99G>T | |
| XM_006713965.2:c.208+99G>T | XP_006714028.1:n.208+99G>T | |
| XM_011513846.1:c.385+99G>T | XP_011512148.1:n.385+99G>T | |
| XM_011513847.1:c.355+99G>T | XP_011512149.1:n.355+99G>T | |
| XM_011513848.1:c.208+99G>T | XP_011512150.1:n.208+99G>T | |
| XM_011513846.2:c.385+99G>T | XP_011512148.1:n.385+99G>T | |
| XM_011513847.2:c.355+99G>T | XP_011512149.1:n.355+99G>T | |
| XM_017008277.1:c.643+99G>T | XP_016863766.1:n.643+99G>T | |
| XM_017008278.1:c.-36+99G>T | XP_016863767.1:n.-36+99G>T | |
| NM_016955.4:c.388+99G>T MANE Select | NP_058651.3:n.388+99G>T |