Linked Data
dbSNP Id:
rs1305177902
gnomAD v2:
16-1412370-A-G
gnomAD v3:
16-1362369-A-G
gnomAD v4:
16-1362369-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362369A>G , CM000678.2:g.1362369A>G | GRCh38 |
| NC_000016.9:g.1412370A>G , CM000678.1:g.1412370A>G | GRCh37 |
| NC_000016.8:g.1352371A>G | NCBI36 |
| NG_016985.1:g.15471A>G | |
| NG_033129.1:g.57336T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.625+49A>G | ||
| ENST00000529110.2:c.610+49A>G | ENSP00000435349.2:n.610+49A>G | |
| ENST00000529957.6:n.584+49A>G | ||
| ENST00000683366.1:c.*258+49A>G | ENSP00000507283.1:n.*258+49A>G | |
| ENST00000683887.1:c.574+49A>G | ENSP00000506886.1:n.574+49A>G | |
| ENST00000684100.1:n.520+49A>G | ||
| ENST00000684126.1:n.584+49A>G | ||
| ENST00000684688.1:n.1151+49A>G | ||
| ENST00000204679.9:c.526+49A>G MANE Select | ENSP00000204679.4:n.526+49A>G | |
| ENST00000204679.8:c.526+49A>G | ENSP00000204679.4:n.526+49A>G | |
| ENST00000527076.1:n.1591A>G | ||
| ENST00000527168.5:n.611A>G | ||
| ENST00000529957.5:n.625+49A>G | ||
| NM_032520.4:c.526+49A>G | NP_115909.1:n.526+49A>G | |
| XM_017023782.1:c.574+49A>G | XP_016879271.1:n.574+49A>G | |
| XM_017023783.1:c.166+49A>G | XP_016879272.1:n.166+49A>G | |
| NM_032520.5:c.526+49A>G MANE Select | NP_115909.1:n.526+49A>G |