Linked Data
ClinVar Variation Id:
392187
dbSNP Id:
rs34840340
ExAC:
4:107163667 T / A
gnomAD v2:
4-107163667-T-A
gnomAD v3:
4-106242510-T-A
gnomAD v4:
4-106242510-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106242510T>A , CM000666.2:g.106242510T>A | GRCh38 |
| NC_000004.11:g.107163667T>A , CM000666.1:g.107163667T>A | GRCh37 |
| NC_000004.10:g.107383116T>A | NCBI36 |
| NG_034057.2:g.83986A>T | |
| NG_034057.3:g.79174A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273980.10:c.1130A>T | ENSP00000273980.4:p.Asp377Val | |
| ENST00000394708.7:c.1130A>T MANE Select | ENSP00000378198.2:p.Asp377Val | |
| ENST00000273980.9:c.1130A>T | ENSP00000273980.4:p.Asp377Val | |
| ENST00000361687.8:c.941A>T | ENSP00000355338.4:p.Asp314Val | |
| ENST00000394706.7:c.1013A>T | ENSP00000378196.3:p.Asp338Val | |
| ENST00000394708.6:c.1130A>T | ENSP00000378198.2:p.Asp377Val | |
| ENST00000432496.6:c.1130A>T | ENSP00000405847.2:p.Asp377Val | |
| ENST00000467183.6:c.*769A>T | ENSP00000421182.1:n.*769A>T | |
| ENST00000508666.5:c.346A>T | ||
| ENST00000510927.5:n.783A>T | ||
| NM_001163435.2:c.1130A>T | NP_001156907.1:p.Asp377Val | |
| NM_001163436.2:c.1130A>T | NP_001156908.1:p.Asp377Val | |
| NM_001163437.2:c.1013A>T | NP_001156909.1:p.Asp338Val | |
| NM_001290768.1:c.614A>T | NP_001277697.1:p.Asp205Val | |
| NM_033115.4:c.941A>T | NP_149106.2:p.Asp314Val | |
| XM_006714419.2:c.1130A>T | XP_006714482.1:p.Asp377Val | |
| XM_011532417.1:c.1130A>T | XP_011530719.1:p.Asp377Val | |
| XM_011532418.1:c.812A>T | XP_011530720.1:p.Asp271Val | |
| XM_011532419.1:c.614A>T | XP_011530721.1:p.Asp205Val | |
| XR_938800.1:n.1159A>T | ||
| XM_011532417.2:c.1130A>T | XP_011530719.1:p.Asp377Val | |
| XM_017008846.1:c.1130A>T | XP_016864335.1:p.Asp377Val | |
| XM_017008847.2:c.1130A>T | XP_016864336.1:p.Asp377Val | |
| XM_017008848.1:c.812A>T | XP_016864337.1:p.Asp271Val | |
| XM_017008849.1:c.614A>T | XP_016864338.1:p.Asp205Val | |
| XM_024454281.1:c.1130A>T | XP_024310049.1:p.Asp377Val | |
| XM_024454282.1:c.1130A>T | XP_024310050.1:p.Asp377Val | |
| XR_001741353.2:n.1470A>T | ||
| XR_001741354.2:n.1067A>T | ||
| XR_002959772.1:n.1254A>T | ||
| XR_938800.3:n.1470A>T | ||
| NM_001163435.3:c.1130A>T MANE Select | NP_001156907.2:p.Asp377Val | |
| NM_001163436.4:c.1130A>T | NP_001156908.2:p.Asp377Val | |
| NM_001163437.3:c.1013A>T | NP_001156909.2:p.Asp338Val | |
| NM_001290768.2:c.614A>T | NP_001277697.2:p.Asp205Val | |
| NM_033115.5:c.941A>T | NP_149106.3:p.Asp314Val |