Linked Data
ClinVar Variation Id:
388412
dbSNP Id:
rs377441764
ExAC:
19:4090576 C / T
gnomAD v2:
19-4090576-C-T
gnomAD v3:
19-4090578-C-T
gnomAD v4:
19-4090578-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090578C>T , CM000681.2:g.4090578C>T | GRCh38 |
| NC_000019.9:g.4090576C>T , CM000681.1:g.4090576C>T | GRCh37 |
| NC_000019.8:g.4041576C>T | NCBI36 |
| NG_007996.1:g.38551G>A , LRG_750:g.38551G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1662G>A | ||
| ENST00000688002.1:n.3374G>A | ||
| ENST00000688751.1:n.359G>A | ||
| ENST00000689792.1:n.1127G>A | ||
| ENST00000262948.10:c.*20G>A MANE Select | ENSP00000262948.4:n.*20G>A | |
| ENST00000262948.9:c.*20G>A | ENSP00000262948.3:n.*20G>A | |
| ENST00000394867.8:c.*20G>A | ENSP00000378336.1:n.*20G>A | |
| ENST00000597263.5:n.408G>A | ||
| ENST00000600584.5:n.2672G>A | ||
| ENST00000601786.5:n.1524G>A | ||
| NM_030662.3:c.*20G>A , LRG_750t1:c.*20G>A | NP_109587.1:n.*20G>A | |
| XM_006722799.2:c.*20G>A | XP_006722862.1:n.*20G>A | |
| XM_011528133.1:c.*20G>A | XP_011526435.1:n.*20G>A | |
| NM_030662.4:c.*20G>A MANE Select | NP_109587.1:n.*20G>A |