Linked Data
ClinVar Variation Id:
2092610
ClinVar RCV Id:
RCV003018284
dbSNP Id:
rs1579342380
gnomAD v4:
4-106235320-G-A
MyVariant Identifiers:
chr4:g.107156477G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106235320G>A , CM000666.2:g.106235320G>A | GRCh38 |
| NC_000004.11:g.107156477G>A , CM000666.1:g.107156477G>A | GRCh37 |
| NC_000004.10:g.107375926G>A | NCBI36 |
| NG_034057.2:g.91176C>T | |
| NG_034057.3:g.86364C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273980.10:c.1398C>T | ENSP00000273980.4:p.Asp466= | |
| ENST00000394708.7:c.1398C>T MANE Select | ENSP00000378198.2:p.Asp466= | |
| ENST00000273980.9:c.1398C>T | ENSP00000273980.4:p.Asp466= | |
| ENST00000361687.8:c.1209C>T | ENSP00000355338.4:p.Asp403= | |
| ENST00000394706.7:c.1281C>T | ENSP00000378196.3:p.Asp427= | |
| ENST00000394708.6:c.1398C>T | ENSP00000378198.2:p.Asp466= | |
| ENST00000432496.6:c.1398C>T | ENSP00000405847.2:p.Asp466= | |
| ENST00000467183.6:c.*1037C>T | ENSP00000421182.1:n.*1037C>T | |
| ENST00000503516.1:c.-13C>T | ENSP00000423834.1:n.-13C>T | |
| ENST00000508666.5:c.662C>T | ||
| ENST00000510927.5:n.1051C>T | ||
| NM_001163435.2:c.1398C>T | NP_001156907.1:p.Asp466= | |
| NM_001163436.2:c.1398C>T | NP_001156908.1:p.Asp466= | |
| NM_001163437.2:c.1281C>T | NP_001156909.1:p.Asp427= | |
| NM_001290768.1:c.882C>T | NP_001277697.1:p.Asp294= | |
| NM_033115.4:c.1209C>T | NP_149106.2:p.Asp403= | |
| XM_006714419.2:c.1398C>T | XP_006714482.1:p.Asp466= | |
| XM_011532417.1:c.1398C>T | XP_011530719.1:p.Asp466= | |
| XM_011532418.1:c.1080C>T | XP_011530720.1:p.Asp360= | |
| XM_011532419.1:c.882C>T | XP_011530721.1:p.Asp294= | |
| XR_938800.1:n.1427C>T | ||
| XM_011532417.2:c.1398C>T | XP_011530719.1:p.Asp466= | |
| XM_017008846.1:c.1398C>T | XP_016864335.1:p.Asp466= | |
| XM_017008847.2:c.1398C>T | XP_016864336.1:p.Asp466= | |
| XM_017008848.1:c.1080C>T | XP_016864337.1:p.Asp360= | |
| XM_017008849.1:c.882C>T | XP_016864338.1:p.Asp294= | |
| XM_024454281.1:c.1398C>T | XP_024310049.1:p.Asp466= | |
| XM_024454282.1:c.1398C>T | XP_024310050.1:p.Asp466= | |
| XR_001741353.2:n.1738C>T | ||
| XR_001741354.2:n.1335C>T | ||
| XR_002959772.1:n.1522C>T | ||
| XR_938800.3:n.1738C>T | ||
| NM_001163435.3:c.1398C>T MANE Select | NP_001156907.2:p.Asp466= | |
| NM_001163436.4:c.1398C>T | NP_001156908.2:p.Asp466= | |
| NM_001163437.3:c.1281C>T | NP_001156909.2:p.Asp427= | |
| NM_001290768.2:c.882C>T | NP_001277697.2:p.Asp294= | |
| NM_033115.5:c.1209C>T | NP_149106.3:p.Asp403= |