Linked Data
dbSNP Id:
rs777760372
ExAC:
22:36960947 G / A
gnomAD v2:
22-36960947-G-A
gnomAD v3:
22-36564900-G-A
gnomAD v4:
22-36564900-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564900G>A , CM000684.2:g.36564900G>A | GRCh38 |
| NC_000022.10:g.36960947G>A , CM000684.1:g.36960947G>A | GRCh37 |
| NC_000022.9:g.35290893G>A | NCBI36 |
| NG_031861.1:g.142744C>T | |
| NG_031861.2:g.142959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.437-14C>T MANE Select | ENSP00000300105.6:n.437-14C>T | |
| ENST00000300105.6:c.437-14C>T | ENSP00000300105.6:n.437-14C>T | |
| NM_006078.3:c.437-14C>T | NP_006069.1:n.437-14C>T | |
| NM_006078.4:c.437-14C>T | NP_006069.1:n.437-14C>T | |
| XM_017028531.2:c.179-14C>T | XP_016884020.1:n.179-14C>T | |
| NM_001379051.1:c.368-14C>T | NP_001365980.1:n.368-14C>T | |
| NM_006078.5:c.437-14C>T MANE Select | NP_006069.1:n.437-14C>T | |
| NR_166440.1:n.1803-14C>T |