Linked Data
dbSNP Id:
rs946221599
gnomAD v2:
19-4090459-C-T
gnomAD v3:
19-4090461-C-T
gnomAD v4:
19-4090461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090461C>T , CM000681.2:g.4090461C>T | GRCh38 |
| NC_000019.9:g.4090459C>T , CM000681.1:g.4090459C>T | GRCh37 |
| NC_000019.8:g.4041459C>T | NCBI36 |
| NG_007996.1:g.38668G>A , LRG_750:g.38668G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1779G>A | ||
| ENST00000688002.1:n.3491G>A | ||
| ENST00000688751.1:n.476G>A | ||
| ENST00000689792.1:n.1244G>A | ||
| ENST00000262948.10:c.*137G>A MANE Select | ENSP00000262948.4:n.*137G>A | |
| ENST00000262948.9:c.*137G>A | ENSP00000262948.3:n.*137G>A | |
| ENST00000394867.8:c.*137G>A | ENSP00000378336.1:n.*137G>A | |
| ENST00000597263.5:n.525G>A | ||
| ENST00000600584.5:n.2789G>A | ||
| ENST00000601786.5:n.1641G>A | ||
| NM_030662.3:c.*137G>A , LRG_750t1:c.*137G>A | NP_109587.1:n.*137G>A | |
| XM_006722799.2:c.*137G>A | XP_006722862.1:n.*137G>A | |
| XM_011528133.1:c.*137G>A | XP_011526435.1:n.*137G>A | |
| NM_030662.4:c.*137G>A MANE Select | NP_109587.1:n.*137G>A |