Linked Data
dbSNP Id:
rs2286502
gnomAD v2:
7-22856619-G-A
gnomAD v3:
7-22817000-G-A
gnomAD v4:
7-22817000-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22817000G>A , CM000669.2:g.22817000G>A | GRCh38 |
| NC_000007.13:g.22856619G>A , CM000669.1:g.22856619G>A | GRCh37 |
| NC_000007.12:g.22823144G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358435.9:c.152+1000C>T MANE Select | ENSP00000351214.4:n.152+1000C>T | |
| ENST00000358435.8:c.152+1000C>T | ENSP00000351214.4:n.152+1000C>T | |
| ENST00000372879.8:c.289+412C>T | ENSP00000361970.4:n.289+412C>T | |
| ENST00000405021.7:c.140+1000C>T | ENSP00000385203.3:n.140+1000C>T | |
| ENST00000463284.2:n.174-3815C>T | ||
| ENST00000483581.1:n.336+1000C>T | ||
| NM_019059.3:c.152+1000C>T | NP_061932.1:n.152+1000C>T | |
| NM_019059.4:c.152+1000C>T | NP_061932.1:n.152+1000C>T | |
| NM_019059.5:c.152+1000C>T MANE Select | NP_061932.1:n.152+1000C>T | |
| NR_168014.1:n.178+1000C>T | ||
| NR_168015.1:n.130-3815C>T |