Linked Data
dbSNP Id:
rs1450430948
gnomAD v2:
16-4847867-G-C
gnomAD v3:
16-4797866-G-C
gnomAD v4:
16-4797866-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797866G>C , CM000678.2:g.4797866G>C | GRCh38 |
| NC_000016.9:g.4847867G>C , CM000678.1:g.4847867G>C | GRCh37 |
| NC_000016.8:g.4787868G>C | NCBI36 |
| NG_032174.1:g.10085C>G , LRG_455:g.10085C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.696-26C>G MANE Select | ENSP00000322832.6:n.696-26C>G | |
| ENST00000322048.11:c.696-26C>G | ENSP00000322832.5:n.696-26C>G | |
| ENST00000586153.1:c.342-30C>G | ENSP00000464699.1:n.342-30C>G | |
| ENST00000586336.5:n.795-26C>G | ||
| ENST00000586504.5:c.426-26C>G | ||
| ENST00000587377.5:c.*16-26C>G | ENSP00000468343.1:n.*16-26C>G | |
| ENST00000587711.5:c.381-26C>G | ENSP00000467459.1:n.381-26C>G | |
| ENST00000587843.5:c.*434-26C>G | ENSP00000465970.1:n.*434-26C>G | |
| ENST00000588201.5:c.*687-26C>G | ENSP00000466529.1:n.*687-26C>G | |
| ENST00000589543.5:n.653-26C>G | ||
| ENST00000591292.5:n.2025-26C>G | ||
| ENST00000591392.5:c.624-26C>G | ENSP00000467509.1:n.624-26C>G | |
| ENST00000592019.1:c.77-51C>G | ||
| NM_024589.2:c.696-26C>G , LRG_455t1:c.696-26C>G | NP_078865.1:n.696-26C>G | |
| NR_046480.1:n.1020-26C>G | ||
| XM_006720947.2:c.696-5C>G | XP_006721010.1:n.696-5C>G | |
| XM_006720948.2:c.426-5C>G | XP_006721011.1:n.426-5C>G | |
| XM_006720947.4:c.696-5C>G | XP_006721010.1:n.696-5C>G | |
| XM_006720948.4:c.426-5C>G | XP_006721011.1:n.426-5C>G | |
| NM_024589.3:c.696-26C>G MANE Select | NP_078865.1:n.696-26C>G | |
| NR_046480.2:n.703-26C>G |