Linked Data
dbSNP Id:
rs1214226542
gnomAD v2:
1-236925852-G-T
gnomAD v3:
1-236762552-G-T
gnomAD v4:
1-236762552-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236762552G>T , CM000663.2:g.236762552G>T | GRCh38 |
| NC_000001.10:g.236925852G>T , CM000663.1:g.236925852G>T | GRCh37 |
| NC_000001.9:g.234992475G>T | NCBI36 |
| NG_009081.1:g.81083G>T | |
| NG_009081.2:g.103412G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.2618G>T | ENSP00000443495.1:p.Gly873Val | |
| ENST00000461367.2:n.914G>T | ||
| ENST00000492634.7:n.2548G>T | ||
| ENST00000682015.1:c.2525G>T | ENSP00000506961.1:p.Gly842Val | |
| ENST00000682490.1:n.536G>T | ||
| ENST00000682692.1:n.3713G>T | ||
| ENST00000682966.1:n.8259G>T | ||
| ENST00000683111.1:c.*1904G>T | ENSP00000507913.1:n.*1904G>T | |
| ENST00000683322.1:n.3970G>T | ||
| ENST00000683805.1:n.1409G>T | ||
| ENST00000684050.1:n.5256G>T | ||
| ENST00000684122.1:n.2052G>T | ||
| ENST00000684286.1:n.4173G>T | ||
| ENST00000684502.1:n.3915G>T | ||
| ENST00000684763.1:n.1233G>T | ||
| ENST00000366578.6:c.2618G>T MANE Select | ENSP00000355537.4:p.Gly873Val | |
| ENST00000492634.6:n.2548G>T | ||
| ENST00000542672.6:c.2618G>T | ENSP00000443495.1:p.Gly873Val | |
| ENST00000651091.1:c.2308G>T | ENSP00000498677.1:n.2308G>T | |
| ENST00000651275.1:c.2510G>T | ENSP00000498926.1:p.Gly837Val | |
| ENST00000651781.1:c.1698G>T | ||
| ENST00000651786.1:c.*1990G>T | ENSP00000498364.1:n.*1990G>T | |
| ENST00000652096.1:c.*2023G>T | ENSP00000498896.1:n.*2023G>T | |
| ENST00000366578.5:c.2618G>T | ENSP00000355537.4:p.Gly873Val | |
| ENST00000461367.1:n.827G>T | ||
| ENST00000542672.5:c.2618G>T | ENSP00000443495.1:p.Gly873Val | |
| ENST00000546208.5:c.1994G>T | ENSP00000438384.2:p.Gly665Val | |
| NM_001103.3:c.2618G>T | NP_001094.1:p.Gly873Val | |
| NM_001278343.1:c.2618G>T | NP_001265272.1:p.Gly873Val | |
| NM_001278344.1:c.1994G>T | NP_001265273.1:p.Gly665Val | |
| NM_001278343.2:c.2618G>T | NP_001265272.1:p.Gly873Val | |
| NM_001103.4:c.2618G>T MANE Select | NP_001094.1:p.Gly873Val | |
| NM_001278344.2:c.1994G>T | NP_001265273.1:p.Gly665Val |