Linked Data
dbSNP Id:
rs761136719
ExAC:
16:1412951 G / A
gnomAD v2:
16-1412951-G-A
gnomAD v3:
16-1362950-G-A
gnomAD v4:
16-1362950-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362950G>A , CM000678.2:g.1362950G>A | GRCh38 |
| NC_000016.9:g.1412951G>A , CM000678.1:g.1412951G>A | GRCh37 |
| NC_000016.8:g.1352952G>A | NCBI36 |
| NG_016985.1:g.16052G>A | |
| NG_033129.1:g.56755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.922+44G>A | ||
| ENST00000529110.2:c.907+44G>A | ENSP00000435349.2:n.907+44G>A | |
| ENST00000529957.6:n.881+44G>A | ||
| ENST00000683366.1:c.*555+44G>A | ENSP00000507283.1:n.*555+44G>A | |
| ENST00000683887.1:c.871+44G>A | ENSP00000506886.1:n.871+44G>A | |
| ENST00000684100.1:n.817+44G>A | ||
| ENST00000684126.1:n.957+44G>A | ||
| ENST00000684688.1:n.1448+44G>A | ||
| ENST00000204679.9:c.823+44G>A MANE Select | ENSP00000204679.4:n.823+44G>A | |
| ENST00000204679.8:c.823+44G>A | ENSP00000204679.4:n.823+44G>A | |
| ENST00000527076.1:n.2046+44G>A | ||
| ENST00000527168.5:n.990+44G>A | ||
| NM_032520.4:c.823+44G>A | NP_115909.1:n.823+44G>A | |
| XM_017023782.1:c.871+44G>A | XP_016879271.1:n.871+44G>A | |
| XM_017023783.1:c.463+44G>A | XP_016879272.1:n.463+44G>A | |
| NM_032520.5:c.823+44G>A MANE Select | NP_115909.1:n.823+44G>A |