Linked Data
dbSNP Id:
rs779879898
ExAC:
19:12758182 G / C
gnomAD v2:
19-12758182-G-C
gnomAD v3:
19-12647368-G-C
gnomAD v4:
19-12647368-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647368G>C , CM000681.2:g.12647368G>C | GRCh38 |
| NC_000019.9:g.12758182G>C , CM000681.1:g.12758182G>C | GRCh37 |
| NC_000019.8:g.12619182G>C | NCBI36 |
| NG_008318.1:g.24410C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2821-33C>G MANE Select | ENSP00000395473.2:n.2821-33C>G | |
| ENST00000221363.8:c.2818-33C>G | ENSP00000221363.4:n.2818-33C>G | |
| ENST00000456935.6:c.2821-33C>G | ENSP00000395473.2:n.2821-33C>G | |
| ENST00000466794.5:n.3411-33C>G | ||
| ENST00000469423.1:n.217C>G | ||
| ENST00000493218.5:n.232-33C>G | ||
| ENST00000597692.1:c.380-33C>G | ||
| NM_000528.3:c.2821-33C>G | NP_000519.2:n.2821-33C>G | |
| NM_001173498.1:c.2818-33C>G | NP_001166969.1:n.2818-33C>G | |
| XM_005259913.1:c.2824-33C>G | XP_005259970.1:n.2824-33C>G | |
| XM_011528017.1:c.1720-33C>G | XP_011526319.1:n.1720-33C>G | |
| XM_005259913.2:c.2824-33C>G | XP_005259970.1:n.2824-33C>G | |
| XM_024451518.1:c.1720-33C>G | XP_024307286.1:n.1720-33C>G | |
| NM_000528.4:c.2821-33C>G MANE Select | NP_000519.2:n.2821-33C>G | |
| NM_001173498.2:c.2818-33C>G | NP_001166969.1:n.2818-33C>G |