Linked Data
dbSNP Id:
rs1385119626
gnomAD v2:
4-25158065-G-A
gnomAD v3:
4-25156443-G-A
gnomAD v4:
4-25156443-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156443G>A , CM000666.2:g.25156443G>A | GRCh38 |
| NC_000004.11:g.25158065G>A , CM000666.1:g.25158065G>A | GRCh37 |
| NC_000004.10:g.24767163G>A | NCBI36 |
| NG_028222.1:g.9140C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.389-248C>T MANE Select | ENSP00000371535.2:n.389-248C>T | |
| ENST00000680581.1:c.389-248C>T | ENSP00000506483.1:n.389-248C>T | |
| ENST00000680824.1:n.1605-248C>T | ||
| ENST00000681071.1:n.681-248C>T | ||
| ENST00000681166.1:n.1436-248C>T | ||
| ENST00000681341.1:n.1530-248C>T | ||
| ENST00000681640.1:n.483-248C>T | ||
| ENST00000681948.1:c.644-248C>T | ENSP00000505991.1:n.644-248C>T | |
| ENST00000358971.7:c.*187-248C>T | ENSP00000351857.3:n.*187-248C>T | |
| ENST00000382103.6:c.389-248C>T | ENSP00000371535.2:n.389-248C>T | |
| ENST00000514585.5:c.*90-248C>T | ENSP00000421880.1:n.*90-248C>T | |
| NM_016955.3:c.389-248C>T | NP_058651.3:n.389-248C>T | |
| XM_005248168.2:c.152-248C>T | XP_005248225.1:n.152-248C>T | |
| XM_006713965.2:c.209-248C>T | XP_006714028.1:n.209-248C>T | |
| XM_011513846.1:c.386-248C>T | XP_011512148.1:n.386-248C>T | |
| XM_011513847.1:c.356-248C>T | XP_011512149.1:n.356-248C>T | |
| XM_011513848.1:c.209-248C>T | XP_011512150.1:n.209-248C>T | |
| XM_011513846.2:c.386-248C>T | XP_011512148.1:n.386-248C>T | |
| XM_011513847.2:c.356-248C>T | XP_011512149.1:n.356-248C>T | |
| XM_017008277.1:c.644-248C>T | XP_016863766.1:n.644-248C>T | |
| XM_017008278.1:c.-35-248C>T | XP_016863767.1:n.-35-248C>T | |
| NM_016955.4:c.389-248C>T MANE Select | NP_058651.3:n.389-248C>T |