Linked Data
dbSNP Id:
rs773872169
ExAC:
19:7593939 C / A
gnomAD v2:
19-7593939-C-A
gnomAD v4:
19-7529053-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529053C>A , CM000681.2:g.7529053C>A | GRCh38 |
| NC_000019.9:g.7593939C>A , CM000681.1:g.7593939C>A | GRCh37 |
| NC_000019.8:g.7499939C>A | NCBI36 |
| NG_015806.1:g.11444C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1135-48C>A MANE Select | ENSP00000264079.5:n.1135-48C>A | |
| ENST00000264079.10:c.1135-48C>A | ENSP00000264079.5:n.1135-48C>A | |
| ENST00000394321.9:n.1450-48C>A | ||
| ENST00000594692.1:n.83C>A | ||
| ENST00000595860.5:n.318-48C>A | ||
| ENST00000599334.1:c.12-48C>A | ||
| NM_020533.2:c.1135-48C>A | NP_065394.1:n.1135-48C>A | |
| NM_020533.3:c.1135-48C>A MANE Select | NP_065394.1:n.1135-48C>A |