Linked Data
dbSNP Id:
rs994274752
gnomAD v2:
19-4090553-C-T
gnomAD v3:
19-4090555-C-T
gnomAD v4:
19-4090555-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090555C>T , CM000681.2:g.4090555C>T | GRCh38 |
| NC_000019.9:g.4090553C>T , CM000681.1:g.4090553C>T | GRCh37 |
| NC_000019.8:g.4041553C>T | NCBI36 |
| NG_007996.1:g.38574G>A , LRG_750:g.38574G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1685G>A | ||
| ENST00000688002.1:n.3397G>A | ||
| ENST00000688751.1:n.382G>A | ||
| ENST00000689792.1:n.1150G>A | ||
| ENST00000262948.10:c.*43G>A MANE Select | ENSP00000262948.4:n.*43G>A | |
| ENST00000262948.9:c.*43G>A | ENSP00000262948.3:n.*43G>A | |
| ENST00000394867.8:c.*43G>A | ENSP00000378336.1:n.*43G>A | |
| ENST00000597263.5:n.431G>A | ||
| ENST00000600584.5:n.2695G>A | ||
| ENST00000601786.5:n.1547G>A | ||
| NM_030662.3:c.*43G>A , LRG_750t1:c.*43G>A | NP_109587.1:n.*43G>A | |
| XM_006722799.2:c.*43G>A | XP_006722862.1:n.*43G>A | |
| XM_011528133.1:c.*43G>A | XP_011526435.1:n.*43G>A | |
| NM_030662.4:c.*43G>A MANE Select | NP_109587.1:n.*43G>A |