Linked Data
dbSNP Id:
rs1349678636
gnomAD v2:
2-220011460-T-A
gnomAD v3:
2-219146738-T-A
gnomAD v4:
2-219146738-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219146738T>A , CM000664.2:g.219146738T>A | GRCh38 |
| NC_000002.11:g.220011460T>A , CM000664.1:g.220011460T>A | GRCh37 |
| NC_000002.10:g.219719704T>A | NCBI36 |
| NG_007880.1:g.19128A>T , LRG_90:g.19128A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426304.6:c.530A>T | ENSP00000394896.2:p.Asp177Val | |
| ENST00000457600.3:c.530A>T | ENSP00000407201.2:p.Asp177Val | |
| ENST00000698174.1:c.530A>T | ENSP00000513594.1:p.Asp177Val | |
| ENST00000698175.1:c.*277A>T | ENSP00000513595.1:n.*277A>T | |
| ENST00000698176.1:n.602A>T | ||
| ENST00000698202.1:c.530A>T | ENSP00000513605.1:p.Asp177Val | |
| ENST00000698203.1:c.530A>T | ENSP00000513606.1:p.Asp177Val | |
| ENST00000356853.10:c.530A>T MANE Select | ENSP00000349313.5:p.Asp177Val | |
| ENST00000318673.6:c.*1652A>T | ENSP00000320919.3:n.*1652A>T | |
| ENST00000356853.9:c.530A>T | ENSP00000349313.5:p.Asp177Val | |
| ENST00000409720.5:c.530A>T | ENSP00000387290.1:p.Asp177Val | |
| ENST00000418099.5:c.530A>T | ENSP00000408966.1:p.Asp177Val | |
| ENST00000426304.5:c.290A>T | ENSP00000394896.1:p.Asp97Val | |
| ENST00000450447.1:c.*217A>T | ENSP00000408421.1:n.*217A>T | |
| ENST00000457600.2:c.530A>T | ENSP00000407201.1:p.Asp177Val | |
| ENST00000498327.5:n.2718A>T | ||
| NM_024782.2:c.530A>T , LRG_90t1:c.530A>T | NP_079058.1:p.Asp177Val | |
| NM_001377498.1:c.530A>T | NP_001364427.1:p.Asp177Val | |
| NM_001377499.1:c.530A>T | NP_001364428.1:p.Asp177Val | |
| NM_024782.3:c.530A>T MANE Select | NP_079058.1:p.Asp177Val | |
| NR_165304.1:n.626A>T |