Linked Data
ClinVar Variation Id:
536406
dbSNP Id:
rs139401358
ExAC:
1:145415613 C / G
gnomAD v2:
1-145415613-C-G
gnomAD v3:
1-146019400-G-C
gnomAD v4:
1-146019400-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146019400G>C , CM000663.2:g.146019400G>C | GRCh38 |
| NC_000001.10:g.145415613C>G , CM000663.1:g.145415613C>G | GRCh37 |
| NC_000001.9:g.144126970C>G | NCBI36 |
| NG_011568.1:g.7423C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336751.11:c.432C>G MANE Select | ENSP00000337014.5:p.Ala144= | |
| ENST00000636675.1:c.-22+298C>G | ENSP00000490072.1:n.-22+298C>G | |
| ENST00000336751.10:c.432C>G | ENSP00000337014.5:p.Ala144= | |
| ENST00000357836.5:c.93C>G | ENSP00000350495.5:p.Ala31= | |
| ENST00000475797.1:c.-21-700C>G | ENSP00000425716.1:n.-21-700C>G | |
| ENST00000497365.5:c.-22+298C>G | ENSP00000421820.1:n.-22+298C>G | |
| ENST00000634927.1:c.134+298C>G | ENSP00000489347.1:n.134+298C>G | |
| NM_001316767.1:c.-22+298C>G | NP_001303696.1:n.-22+298C>G | |
| NM_145277.4:c.93C>G | NP_660320.3:p.Ala31= | |
| NM_202004.3:c.-22+298C>G | NP_973733.1:n.-22+298C>G | |
| NM_213652.3:c.-21-700C>G | NP_998817.1:n.-21-700C>G | |
| NM_213653.3:c.432C>G | NP_998818.1:p.Ala144= | |
| XM_005272932.1:c.432C>G | XP_005272989.1:p.Ala144= | |
| NM_001316767.2:c.-22+298C>G | NP_001303696.1:n.-22+298C>G | |
| NM_145277.5:c.93C>G | NP_660320.3:p.Ala31= | |
| NM_202004.4:c.-22+298C>G | NP_973733.1:n.-22+298C>G | |
| NM_213652.4:c.-21-700C>G | NP_998817.1:n.-21-700C>G | |
| NM_001379352.1:c.432C>G | NP_001366281.1:p.Ala144= | |
| NM_213653.4:c.432C>G MANE Select | NP_998818.1:p.Ala144= |