Linked Data
dbSNP Id:
rs11879191
gnomAD v2:
19-10512911-G-C
gnomAD v3:
19-10402235-G-C
gnomAD v4:
19-10402235-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10402235G>C , CM000681.2:g.10402235G>C | GRCh38 |
| NC_000019.9:g.10512911G>C , CM000681.1:g.10512911G>C | GRCh37 |
| NC_000019.8:g.10373911G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222005.7:c.102+1143C>G MANE Select | ENSP00000222005.1:n.102+1143C>G | |
| ENST00000222005.6:c.102+1143C>G | ENSP00000222005.1:n.102+1143C>G | |
| ENST00000588869.1:c.102+1143C>G | ENSP00000464971.1:n.102+1143C>G | |
| ENST00000589629.5:c.102+1143C>G | ENSP00000467747.1:n.102+1143C>G | |
| ENST00000591248.5:n.153+1143C>G | ||
| ENST00000593124.1:c.102+1143C>G | ENSP00000465724.1:n.102+1143C>G | |
| NM_007065.3:c.102+1143C>G | NP_008996.1:n.102+1143C>G | |
| XM_011527652.1:c.102+1143C>G | XP_011525954.1:n.102+1143C>G | |
| XM_011527652.3:c.102+1143C>G | XP_011525954.1:n.102+1143C>G | |
| NM_007065.4:c.102+1143C>G MANE Select | NP_008996.1:n.102+1143C>G |