Linked Data
dbSNP Id:
rs11150610
gnomAD v2:
16-31334236-C-A
gnomAD v3:
16-31322915-C-A
gnomAD v4:
16-31322915-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31322915C>A , CM000678.2:g.31322915C>A | GRCh38 |
| NC_000016.9:g.31334236C>A , CM000678.1:g.31334236C>A | GRCh37 |
| NC_000016.8:g.31241737C>A | NCBI36 |
| NG_011719.1:g.67949C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000544665.9:c.2002+1288C>A MANE Select | ENSP00000441691.3:n.2002+1288C>A | |
| ENST00000648685.1:c.2005+1288C>A | ENSP00000496959.1:n.2005+1288C>A | |
| ENST00000287497.12:c.2002+1288C>A | ENSP00000287497.8:n.2002+1288C>A | |
| ENST00000544665.7:c.2005+1288C>A | ENSP00000441691.2:n.2005+1288C>A | |
| ENST00000567031.1:c.454-1484C>A | ||
| NM_000632.3:c.2002+1288C>A | NP_000623.2:n.2002+1288C>A | |
| NM_001145808.1:c.2005+1288C>A | NP_001139280.1:n.2005+1288C>A | |
| XM_011545850.1:c.1819+1288C>A | XP_011544152.1:n.1819+1288C>A | |
| XM_011545851.1:c.1842-1484C>A | XP_011544153.1:n.1842-1484C>A | |
| XR_950796.1:n.2095+1288C>A | ||
| XM_011545850.2:c.1819+1288C>A | XP_011544152.1:n.1819+1288C>A | |
| XM_011545851.2:c.1842-1484C>A | XP_011544153.1:n.1842-1484C>A | |
| XM_017023216.1:c.2005+1288C>A | XP_016878705.1:n.2005+1288C>A | |
| NM_000632.4:c.2002+1288C>A MANE Select | NP_000623.2:n.2002+1288C>A | |
| NM_001145808.2:c.2005+1288C>A | NP_001139280.1:n.2005+1288C>A |