Linked Data
dbSNP Id:
rs11668618
gnomAD v2:
19-10365896-C-T
gnomAD v3:
19-10255220-C-T
gnomAD v4:
19-10255220-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10255220C>T , CM000681.2:g.10255220C>T | GRCh38 |
| NC_000019.9:g.10365896C>T , CM000681.1:g.10365896C>T | GRCh37 |
| NC_000019.8:g.10226896C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253099.11:c.327+580C>T MANE Select | ENSP00000253099.5:n.327+580C>T | |
| ENST00000253099.10:c.327+580C>T | ENSP00000253099.5:n.327+580C>T | |
| ENST00000307422.9:c.327+580C>T | ENSP00000306902.5:n.327+580C>T | |
| ENST00000393733.6:c.327+580C>T | ENSP00000377334.2:n.327+580C>T | |
| ENST00000588502.5:c.324+580C>T | ENSP00000466169.1:n.324+580C>T | |
| ENST00000590150.5:c.360+580C>T | ENSP00000466050.1:n.360+580C>T | |
| ENST00000590669.5:c.327+580C>T | ENSP00000465143.1:n.327+580C>T | |
| ENST00000590702.1:c.21+580C>T | ENSP00000465050.1:n.21+580C>T | |
| ENST00000591054.5:c.327+580C>T | ENSP00000465635.1:n.327+580C>T | |
| ENST00000592071.1:n.990C>T | ||
| ENST00000592514.5:c.327+580C>T | ENSP00000468569.1:n.327+580C>T | |
| NM_015956.2:c.327+580C>T | NP_057040.2:n.327+580C>T | |
| NM_146387.1:c.327+580C>T | NP_666499.1:n.327+580C>T | |
| NM_146388.1:c.327+580C>T | NP_666500.1:n.327+580C>T | |
| XM_011528045.1:c.327+580C>T | XP_011526347.1:n.327+580C>T | |
| XM_011528045.3:c.327+580C>T | XP_011526347.1:n.327+580C>T | |
| NM_015956.3:c.327+580C>T MANE Select | NP_057040.2:n.327+580C>T | |
| NM_146388.2:c.327+580C>T | NP_666500.1:n.327+580C>T | |
| NM_146387.2:c.327+580C>T | NP_666499.1:n.327+580C>T |