Linked Data
dbSNP Id:
rs1011583880
gnomAD v2:
7-22856641-G-A
gnomAD v3:
7-22817022-G-A
gnomAD v4:
7-22817022-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22817022G>A , CM000669.2:g.22817022G>A | GRCh38 |
| NC_000007.13:g.22856641G>A , CM000669.1:g.22856641G>A | GRCh37 |
| NC_000007.12:g.22823166G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358435.9:c.152+978C>T MANE Select | ENSP00000351214.4:n.152+978C>T | |
| ENST00000358435.8:c.152+978C>T | ENSP00000351214.4:n.152+978C>T | |
| ENST00000372879.8:c.289+390C>T | ENSP00000361970.4:n.289+390C>T | |
| ENST00000405021.7:c.140+978C>T | ENSP00000385203.3:n.140+978C>T | |
| ENST00000463284.2:n.174-3837C>T | ||
| ENST00000483581.1:n.336+978C>T | ||
| NM_019059.3:c.152+978C>T | NP_061932.1:n.152+978C>T | |
| NM_019059.4:c.152+978C>T | NP_061932.1:n.152+978C>T | |
| NM_019059.5:c.152+978C>T MANE Select | NP_061932.1:n.152+978C>T | |
| NR_168014.1:n.178+978C>T | ||
| NR_168015.1:n.130-3837C>T |