Linked Data
dbSNP Id:
rs1481649701
gnomAD v2:
22-38163988-C-G
gnomAD v3:
22-37767981-C-G
gnomAD v4:
22-37767981-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37767981C>G , CM000684.2:g.37767981C>G | GRCh38 |
| NC_000022.10:g.38163988C>G , CM000684.1:g.38163988C>G | GRCh37 |
| NC_000022.9:g.36493934C>G | NCBI36 |
| NG_012857.1:g.75994C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.6473-93C>G MANE Select | ENSP00000496394.1:n.6473-93C>G | |
| ENST00000344404.10:c.*5956-93C>G | ENSP00000340312.6:n.*5956-93C>G | |
| ENST00000403663.6:c.1334-93C>G | ENSP00000386026.2:n.1334-93C>G | |
| ENST00000406386.7:c.6473-93C>G | ENSP00000384312.3:n.6473-93C>G | |
| NM_001039141.2:c.6473-93C>G | NP_001034230.1:n.6473-93C>G | |
| NM_007032.5:c.1334-93C>G | NP_008963.3:n.1334-93C>G | |
| NM_001039141.3:c.6473-93C>G MANE Select | NP_001034230.1:n.6473-93C>G |