Linked Data
dbSNP Id:
rs1985671
gnomAD v2:
22-45961904-G-T
gnomAD v3:
22-45566024-G-T
gnomAD v4:
22-45566024-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45566024G>T , CM000684.2:g.45566024G>T | GRCh38 |
| NC_000022.10:g.45961904G>T , CM000684.1:g.45961904G>T | GRCh37 |
| NC_000022.9:g.44340568G>T | NCBI36 |
| NG_023308.2:g.68186G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327858.11:c.1698-8487G>T MANE Select | ENSP00000331544.6:n.1698-8487G>T | |
| ENST00000327858.10:c.1698-8487G>T | ENSP00000331544.6:n.1698-8487G>T | |
| NM_006486.2:c.1698-8487G>T | NP_006477.2:n.1698-8487G>T | |
| NM_006486.3:c.1698-8487G>T MANE Select | NP_006477.3:n.1698-8487G>T |