Linked Data
dbSNP Id:
rs1202227525
gnomAD v2:
19-12774503-A-C
gnomAD v3:
19-12663689-A-C
gnomAD v4:
19-12663689-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12663689A>C , CM000681.2:g.12663689A>C | GRCh38 |
| NC_000019.9:g.12774503A>C , CM000681.1:g.12774503A>C | GRCh37 |
| NC_000019.8:g.12635503A>C | NCBI36 |
| NG_008318.1:g.8089T>G | |
| NG_015814.1:g.1886A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.763+14T>G MANE Select | ENSP00000395473.2:n.763+14T>G | |
| ENST00000221363.8:c.763+14T>G | ENSP00000221363.4:n.763+14T>G | |
| ENST00000456935.6:c.763+14T>G | ENSP00000395473.2:n.763+14T>G | |
| ENST00000466794.5:n.745+14T>G | ||
| ENST00000486847.2:c.466+14T>G | ENSP00000470174.1:n.466+14T>G | |
| NM_000528.3:c.763+14T>G | NP_000519.2:n.763+14T>G | |
| NM_001173498.1:c.763+14T>G | NP_001166969.1:n.763+14T>G | |
| XM_005259913.1:c.763+14T>G | XP_005259970.1:n.763+14T>G | |
| XM_005259913.2:c.763+14T>G | XP_005259970.1:n.763+14T>G | |
| XM_024451518.1:c.-256+14T>G | XP_024307286.1:n.-256+14T>G | |
| NM_000528.4:c.763+14T>G MANE Select | NP_000519.2:n.763+14T>G | |
| NM_001173498.2:c.763+14T>G | NP_001166969.1:n.763+14T>G |