Linked Data
dbSNP Id:
rs200329677
gnomAD v2:
22-46369778-C-T
gnomAD v3:
22-45973898-C-T
gnomAD v4:
22-45973898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45973898C>T , CM000684.2:g.45973898C>T | GRCh38 |
| NC_000022.10:g.46369778C>T , CM000684.1:g.46369778C>T | GRCh37 |
| NC_000022.9:g.44748442C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339464.9:c.71+2786G>A MANE Select | ENSP00000341032.4:n.71+2786G>A | |
| ENST00000339464.8:c.71+2786G>A | ENSP00000341032.4:n.71+2786G>A | |
| ENST00000410058.1:c.71+2786G>A | ENSP00000387217.1:n.71+2786G>A | |
| ENST00000410089.5:c.23+1647G>A | ENSP00000386781.1:n.23+1647G>A | |
| ENST00000428540.1:c.-131+1792G>A | ENSP00000392750.1:n.-131+1792G>A | |
| NM_058238.2:c.71+2786G>A | NP_478679.1:n.71+2786G>A | |
| NM_058238.3:c.71+2786G>A MANE Select | NP_478679.1:n.71+2786G>A |