Linked Data
dbSNP Id:
rs1428758
gnomAD v2:
16-76341506-A-G
gnomAD v3:
16-76307609-A-G
gnomAD v4:
16-76307609-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.76307609A>G , CM000678.2:g.76307609A>G | GRCh38 |
| NC_000016.9:g.76341506A>G , CM000678.1:g.76341506A>G | GRCh37 |
| NC_000016.8:g.74899007A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000611870.5:c.86-8804A>G MANE Select | ENSP00000479811.1:n.86-8804A>G | |
| ENST00000655556.1:c.86-8804A>G | ENSP00000499374.1:n.86-8804A>G | |
| ENST00000307431.12:c.86-8804A>G | ENSP00000306893.9:n.86-8804A>G | |
| ENST00000377504.8:c.86-8804A>G | ENSP00000439733.2:n.86-8804A>G | |
| ENST00000611870.4:c.86-8804A>G | ENSP00000479811.1:n.86-8804A>G | |
| ENST00000622250.4:c.86-8804A>G | ENSP00000477698.1:n.86-8804A>G | |
| NM_033401.3:c.86-8804A>G | NP_207837.2:n.86-8804A>G | |
| NM_001322178.1:c.86-8804A>G | NP_001309107.1:n.86-8804A>G | |
| NM_001322179.1:c.86-8804A>G | NP_001309108.1:n.86-8804A>G | |
| NM_001322180.1:c.-108-8804A>G | NP_001309109.1:n.-108-8804A>G | |
| NM_001322181.1:c.86-8804A>G | NP_001309110.1:n.86-8804A>G | |
| NM_001322187.1:c.-1396-8804A>G | NP_001309116.1:n.-1396-8804A>G | |
| NM_001322188.1:c.86-8804A>G | NP_001309117.1:n.86-8804A>G | |
| NM_001322189.1:c.-179-8804A>G | NP_001309118.1:n.-179-8804A>G | |
| NM_001322190.1:c.86-8804A>G | NP_001309119.1:n.86-8804A>G | |
| NM_001322191.1:c.-643-8804A>G | NP_001309120.1:n.-643-8804A>G | |
| NM_033401.4:c.86-8804A>G | NP_207837.2:n.86-8804A>G | |
| NR_136210.1:n.532-8804A>G | ||
| NR_136213.1:n.532-8804A>G | ||
| NR_136216.1:n.532-8804A>G | ||
| XM_017023805.2:c.-837-8804A>G | XP_016879294.1:n.-837-8804A>G | |
| XR_001752013.1:n.373-8804A>G | ||
| NM_033401.5:c.86-8804A>G MANE Select | NP_207837.2:n.86-8804A>G | |
| NM_001322178.2:c.86-8804A>G | NP_001309107.1:n.86-8804A>G | |
| NM_001322179.2:c.86-8804A>G | NP_001309108.1:n.86-8804A>G | |
| NM_001322180.2:c.-108-8804A>G | NP_001309109.1:n.-108-8804A>G | |
| NM_001322181.2:c.86-8804A>G | NP_001309110.1:n.86-8804A>G | |
| NM_001322187.2:c.-1396-8804A>G | NP_001309116.1:n.-1396-8804A>G | |
| NM_001322188.2:c.86-8804A>G | NP_001309117.1:n.86-8804A>G | |
| NM_001322189.2:c.-179-8804A>G | NP_001309118.1:n.-179-8804A>G | |
| NM_001322190.2:c.86-8804A>G | NP_001309119.1:n.86-8804A>G | |
| NM_001322191.2:c.-643-8804A>G | NP_001309120.1:n.-643-8804A>G | |
| NR_136210.2:n.348-8804A>G | ||
| NR_136213.2:n.348-8804A>G | ||
| NR_136216.2:n.348-8804A>G |