Linked Data
dbSNP Id:
rs3829963
gnomAD v2:
6-36644386-C-A
gnomAD v3:
6-36676609-C-A
gnomAD v4:
6-36676609-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36676609C>A , CM000668.2:g.36676609C>A | GRCh38 |
| NC_000006.11:g.36644386C>A , CM000668.1:g.36644386C>A | GRCh37 |
| NC_000006.10:g.36752364C>A | NCBI36 |
| NG_009364.1:g.2928C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000448526.6:c.-38+85C>A | ENSP00000409259.3:n.-38+85C>A | |
| ENST00000459970.1:n.43+39C>A | ||
| ENST00000615513.4:c.-6+85C>A | ENSP00000482768.1:n.-6+85C>A | |
| NM_001220777.1:c.-6+85C>A | NP_001207706.1:n.-6+85C>A | |
| NM_001291549.1:c.-142+39C>A | NP_001278478.1:n.-142+39C>A | |
| NM_078467.2:c.-38+85C>A | NP_510867.1:n.-38+85C>A | |
| NM_001220777.2:c.-6+85C>A | NP_001207706.1:n.-6+85C>A | |
| NM_001291549.3:c.-142+39C>A | NP_001278478.1:n.-142+39C>A | |
| NM_001374509.1:c.-50+39C>A | NP_001361438.1:n.-50+39C>A | |
| NM_001374510.1:c.34+39C>A | NP_001361439.1:n.34+39C>A | |
| NM_078467.3:c.-38+85C>A | NP_510867.1:n.-38+85C>A |