Linked Data
dbSNP Id:
rs752103190
ExAC:
1:117690295 G / A
gnomAD v2:
1-117690295-G-A
gnomAD v3:
1-117147673-G-A
gnomAD v4:
1-117147673-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.117147673G>A , CM000663.2:g.117147673G>A | GRCh38 |
| NC_000001.10:g.117690295G>A , CM000663.1:g.117690295G>A | GRCh37 |
| NC_000001.9:g.117491818G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369458.8:c.834C>T MANE Select | ENSP00000358470.3:p.Tyr278= | |
| ENST00000328189.7:c.486C>T | ENSP00000328168.3:p.Tyr162= | |
| ENST00000359008.8:c.843C>T | ENSP00000351899.4:p.Tyr281= | |
| ENST00000369458.7:c.834C>T | ENSP00000358470.3:p.Tyr278= | |
| ENST00000539893.5:c.549C>T | ENSP00000444724.1:p.Tyr183= | |
| NM_001253849.1:c.549C>T | NP_001240778.1:p.Tyr183= | |
| NM_001253850.1:c.486C>T | NP_001240779.1:p.Tyr162= | |
| NM_024626.3:c.834C>T | NP_078902.2:p.Tyr278= | |
| NR_045603.1:n.1029C>T | ||
| NR_045604.1:n.733C>T | ||
| XM_011542143.1:c.885C>T | XP_011540445.1:p.Tyr295= | |
| XM_011542144.1:c.888C>T | XP_011540446.1:p.Tyr296= | |
| XM_011542145.1:c.849C>T | XP_011540447.1:p.Tyr283= | |
| XM_011542143.2:c.984C>T | XP_011540445.2:p.Tyr328= | |
| XM_017002335.2:c.849C>T | XP_016857824.1:p.Tyr283= | |
| NM_024626.4:c.834C>T MANE Select | NP_078902.2:p.Tyr278= | |
| NR_045603.2:n.996C>T | ||
| NR_045604.2:n.700C>T | ||
| NM_001253849.2:c.549C>T | NP_001240778.1:p.Tyr183= | |
| NM_001253850.2:c.486C>T | NP_001240779.1:p.Tyr162= |