Linked Data
dbSNP Id:
rs751937793
ExAC:
16:4847903 T / C
gnomAD v2:
16-4847903-T-C
gnomAD v3:
16-4797902-T-C
gnomAD v4:
16-4797902-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797902T>C , CM000678.2:g.4797902T>C | GRCh38 |
| NC_000016.9:g.4847903T>C , CM000678.1:g.4847903T>C | GRCh37 |
| NC_000016.8:g.4787904T>C | NCBI36 |
| NG_032174.1:g.10049A>G , LRG_455:g.10049A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.695+36A>G MANE Select | ENSP00000322832.6:n.695+36A>G | |
| ENST00000322048.11:c.695+36A>G | ENSP00000322832.5:n.695+36A>G | |
| ENST00000586153.1:c.341+36A>G | ENSP00000464699.1:n.341+36A>G | |
| ENST00000586336.5:n.794+36A>G | ||
| ENST00000586504.5:c.426-62A>G | ||
| ENST00000587377.5:c.*15+36A>G | ENSP00000468343.1:n.*15+36A>G | |
| ENST00000587711.5:c.380+36A>G | ENSP00000467459.1:n.380+36A>G | |
| ENST00000587843.5:c.*433+36A>G | ENSP00000465970.1:n.*433+36A>G | |
| ENST00000588201.5:c.*686+36A>G | ENSP00000466529.1:n.*686+36A>G | |
| ENST00000589543.5:n.652+36A>G | ||
| ENST00000591292.5:n.2024+36A>G | ||
| ENST00000591392.5:c.623+36A>G | ENSP00000467509.1:n.623+36A>G | |
| ENST00000592019.1:c.77-87A>G | ||
| NM_024589.2:c.695+36A>G , LRG_455t1:c.695+36A>G | NP_078865.1:n.695+36A>G | |
| NR_046480.1:n.1019+36A>G | ||
| XM_006720947.2:c.695+36A>G | XP_006721010.1:n.695+36A>G | |
| XM_006720948.2:c.425+36A>G | XP_006721011.1:n.425+36A>G | |
| XM_006720947.4:c.695+36A>G | XP_006721010.1:n.695+36A>G | |
| XM_006720948.4:c.425+36A>G | XP_006721011.1:n.425+36A>G | |
| NM_024589.3:c.695+36A>G MANE Select | NP_078865.1:n.695+36A>G | |
| NR_046480.2:n.702+36A>G |