Linked Data
dbSNP Id:
rs182503338
gnomAD v2:
6-34582274-T-G
gnomAD v3:
6-34614497-T-G
gnomAD v4:
6-34614497-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34614497T>G , CM000668.2:g.34614497T>G | GRCh38 |
| NC_000006.11:g.34582274T>G , CM000668.1:g.34582274T>G | GRCh37 |
| NC_000006.10:g.34690252T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374023.8:c.512-7593A>C MANE Select | ENSP00000363135.3:n.512-7593A>C | |
| ENST00000374021.1:c.290-7593A>C | ENSP00000363133.1:n.290-7593A>C | |
| ENST00000374023.7:c.512-7593A>C | ENSP00000363135.3:n.512-7593A>C | |
| ENST00000374026.7:c.314-7593A>C | ENSP00000363138.3:n.314-7593A>C | |
| NM_022758.5:c.314-7593A>C | NP_073595.2:n.314-7593A>C | |
| NM_024294.3:c.512-7593A>C | NP_077270.1:n.512-7593A>C | |
| XM_005249298.1:c.512-7593A>C | XP_005249355.1:n.512-7593A>C | |
| XR_926300.1:n.711-7593A>C | ||
| XM_005249298.3:c.512-7593A>C | XP_005249355.1:n.512-7593A>C | |
| XR_926300.3:n.674-7593A>C | ||
| NM_024294.4:c.512-7593A>C MANE Select | NP_077270.1:n.512-7593A>C | |
| NM_022758.6:c.314-7593A>C | NP_073595.2:n.314-7593A>C |