Linked Data
dbSNP Id:
rs193195195
gnomAD v2:
16-31334257-A-G
gnomAD v3:
16-31322936-A-G
gnomAD v4:
16-31322936-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31322936A>G , CM000678.2:g.31322936A>G | GRCh38 |
| NC_000016.9:g.31334257A>G , CM000678.1:g.31334257A>G | GRCh37 |
| NC_000016.8:g.31241758A>G | NCBI36 |
| NG_011719.1:g.67970A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000544665.9:c.2002+1309A>G MANE Select | ENSP00000441691.3:n.2002+1309A>G | |
| ENST00000648685.1:c.2005+1309A>G | ENSP00000496959.1:n.2005+1309A>G | |
| ENST00000287497.12:c.2002+1309A>G | ENSP00000287497.8:n.2002+1309A>G | |
| ENST00000544665.7:c.2005+1309A>G | ENSP00000441691.2:n.2005+1309A>G | |
| ENST00000567031.1:c.454-1463A>G | ||
| NM_000632.3:c.2002+1309A>G | NP_000623.2:n.2002+1309A>G | |
| NM_001145808.1:c.2005+1309A>G | NP_001139280.1:n.2005+1309A>G | |
| XM_011545850.1:c.1819+1309A>G | XP_011544152.1:n.1819+1309A>G | |
| XM_011545851.1:c.1842-1463A>G | XP_011544153.1:n.1842-1463A>G | |
| XR_950796.1:n.2095+1309A>G | ||
| XM_011545850.2:c.1819+1309A>G | XP_011544152.1:n.1819+1309A>G | |
| XM_011545851.2:c.1842-1463A>G | XP_011544153.1:n.1842-1463A>G | |
| XM_017023216.1:c.2005+1309A>G | XP_016878705.1:n.2005+1309A>G | |
| NM_000632.4:c.2002+1309A>G MANE Select | NP_000623.2:n.2002+1309A>G | |
| NM_001145808.2:c.2005+1309A>G | NP_001139280.1:n.2005+1309A>G |