Linked Data
ClinVar Variation Id:
1094466
ClinVar RCV Id:
RCV001415013
dbSNP Id:
rs1049709984
gnomAD v2:
4-25158484-G-A
gnomAD v4:
4-25156862-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156862G>A , CM000666.2:g.25156862G>A | GRCh38 |
| NC_000004.11:g.25158484G>A , CM000666.1:g.25158484G>A | GRCh37 |
| NC_000004.10:g.24767582G>A | NCBI36 |
| NG_028222.1:g.8721C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382103.7:c.382C>T MANE Select | ENSP00000371535.2:p.Leu128= | |
| ENST00000680581.1:c.382C>T | ENSP00000506483.1:p.Leu128= | |
| ENST00000680824.1:n.1598C>T | ||
| ENST00000681071.1:n.674C>T | ||
| ENST00000681166.1:n.1429C>T | ||
| ENST00000681341.1:n.1523C>T | ||
| ENST00000681640.1:n.476C>T | ||
| ENST00000681948.1:c.637C>T | ENSP00000505991.1:p.Leu213= | |
| ENST00000358971.7:c.*180C>T | ENSP00000351857.3:n.*180C>T | |
| ENST00000382103.6:c.382C>T | ENSP00000371535.2:p.Leu128= | |
| ENST00000514585.5:c.*83C>T | ENSP00000421880.1:n.*83C>T | |
| NM_016955.3:c.382C>T | NP_058651.3:p.Leu128= | |
| XM_005248168.2:c.145C>T | XP_005248225.1:p.Leu49= | |
| XM_006713965.2:c.202C>T | XP_006714028.1:p.Leu68= | |
| XM_011513846.1:c.379C>T | XP_011512148.1:p.Leu127= | |
| XM_011513847.1:c.349C>T | XP_011512149.1:p.Leu117= | |
| XM_011513848.1:c.202C>T | XP_011512150.1:p.Leu68= | |
| XM_011513846.2:c.379C>T | XP_011512148.1:p.Leu127= | |
| XM_011513847.2:c.349C>T | XP_011512149.1:p.Leu117= | |
| XM_017008277.1:c.637C>T | XP_016863766.1:p.Leu213= | |
| XM_017008278.1:c.-42C>T | XP_016863767.1:n.-42C>T | |
| NM_016955.4:c.382C>T MANE Select | NP_058651.3:p.Leu128= |