Linked Data
dbSNP Id:
rs781023308
ExAC:
19:4090555 G / A
gnomAD v2:
19-4090555-G-A
gnomAD v3:
19-4090557-G-A
gnomAD v4:
19-4090557-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090557G>A , CM000681.2:g.4090557G>A | GRCh38 |
| NC_000019.9:g.4090555G>A , CM000681.1:g.4090555G>A | GRCh37 |
| NC_000019.8:g.4041555G>A | NCBI36 |
| NG_007996.1:g.38572C>T , LRG_750:g.38572C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1683C>T | ||
| ENST00000688002.1:n.3395C>T | ||
| ENST00000688751.1:n.380C>T | ||
| ENST00000689792.1:n.1148C>T | ||
| ENST00000262948.10:c.*41C>T MANE Select | ENSP00000262948.4:n.*41C>T | |
| ENST00000262948.9:c.*41C>T | ENSP00000262948.3:n.*41C>T | |
| ENST00000394867.8:c.*41C>T | ENSP00000378336.1:n.*41C>T | |
| ENST00000597263.5:n.429C>T | ||
| ENST00000600584.5:n.2693C>T | ||
| ENST00000601786.5:n.1545C>T | ||
| NM_030662.3:c.*41C>T , LRG_750t1:c.*41C>T | NP_109587.1:n.*41C>T | |
| XM_006722799.2:c.*41C>T | XP_006722862.1:n.*41C>T | |
| XM_011528133.1:c.*41C>T | XP_011526435.1:n.*41C>T | |
| NM_030662.4:c.*41C>T MANE Select | NP_109587.1:n.*41C>T |