Linked Data
ClinVar Variation Id:
2421579
ClinVar RCV Id:
RCV003115880
dbSNP Id:
rs376769752
ExAC:
4:113345158 G / A
gnomAD v2:
4-113345158-G-A
gnomAD v3:
4-112424002-G-A
gnomAD v4:
4-112424002-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.112424002G>A , CM000666.2:g.112424002G>A | GRCh38 |
| NC_000004.11:g.113345158G>A , CM000666.1:g.113345158G>A | GRCh37 |
| NC_000004.10:g.113564607G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458497.6:c.534G>A | ENSP00000398048.1:p.Thr178= | |
| ENST00000650871.1:c.534G>A MANE Select | ENSP00000498374.1:p.Thr178= | |
| ENST00000177648.13:c.534G>A | ENSP00000177648.9:p.Thr178= | |
| ENST00000458497.5:c.534G>A | ENSP00000398048.1:p.Thr178= | |
| ENST00000504176.6:c.300G>A | ENSP00000426044.2:p.Thr100= | |
| ENST00000504745.1:n.307G>A | ||
| ENST00000505127.5:c.534G>A | ENSP00000425559.1:p.Thr178= | |
| ENST00000509209.1:n.215G>A | ||
| ENST00000509722.5:c.379G>A | ENSP00000424492.1:p.Gly127Arg | |
| ENST00000515330.5:c.*245G>A | ENSP00000423978.1:n.*245G>A | |
| NM_001102406.1:c.534G>A | NP_001095876.1:p.Thr178= | |
| NM_001253884.1:c.300G>A | NP_001240813.1:p.Thr100= | |
| NM_025144.3:c.534G>A | NP_079420.3:p.Thr178= | |
| XM_005263245.3:c.534G>A | XP_005263302.1:p.Thr178= | |
| XM_005263246.3:c.534G>A | XP_005263303.1:p.Thr178= | |
| XM_005263247.3:c.300G>A | XP_005263304.1:p.Thr100= | |
| XM_005263248.3:c.300G>A | XP_005263305.1:p.Thr100= | |
| XM_006714326.2:c.476-1663G>A | XP_006714389.1:n.476-1663G>A | |
| XM_011532280.1:c.534G>A | XP_011530582.1:p.Thr178= | |
| XM_011532281.1:c.534G>A | XP_011530583.1:p.Thr178= | |
| XM_011532282.1:c.534G>A | XP_011530584.1:p.Thr178= | |
| XM_011532283.1:c.534G>A | XP_011530585.1:p.Thr178= | |
| XM_005263245.4:c.534G>A | XP_005263302.1:p.Thr178= | |
| XM_005263246.4:c.534G>A | XP_005263303.1:p.Thr178= | |
| XM_006714326.3:c.476-1663G>A | XP_006714389.1:n.476-1663G>A | |
| XM_017008633.1:c.534G>A | XP_016864122.1:p.Thr178= | |
| XM_017008634.1:c.534G>A | XP_016864123.1:p.Thr178= | |
| XM_017008635.1:c.534G>A | XP_016864124.1:p.Thr178= | |
| XM_017008636.1:c.534G>A | XP_016864125.1:p.Thr178= | |
| XM_017008637.1:c.534G>A | XP_016864126.1:p.Thr178= | |
| XM_017008638.2:c.534G>A | XP_016864127.1:p.Thr178= | |
| XM_017008639.1:c.534G>A | XP_016864128.1:p.Thr178= | |
| XM_017008640.1:c.534G>A | XP_016864129.1:p.Thr178= | |
| XM_017008641.2:c.534G>A | XP_016864130.1:p.Thr178= | |
| XM_017008642.1:c.534G>A | XP_016864131.1:p.Thr178= | |
| XM_017008643.1:c.476-1663G>A | XP_016864132.1:n.476-1663G>A | |
| XM_017008644.1:c.465G>A | XP_016864133.1:p.Thr155= | |
| XM_017008645.1:c.476-1663G>A | XP_016864134.1:n.476-1663G>A | |
| XM_017008646.1:c.534G>A | XP_016864135.1:p.Thr178= | |
| XM_017008647.1:c.300G>A | XP_016864136.1:p.Thr100= | |
| XM_017008648.1:c.300G>A | XP_016864137.1:p.Thr100= | |
| XM_017008649.2:c.-51G>A | XP_016864138.1:n.-51G>A | |
| XM_017008651.1:c.-51G>A | XP_016864140.1:n.-51G>A | |
| NM_025144.4:c.534G>A MANE Select | NP_079420.3:p.Thr178= | |
| NM_001102406.2:c.534G>A | NP_001095876.1:p.Thr178= | |
| NM_001253884.2:c.300G>A | NP_001240813.1:p.Thr100= |