Linked Data
dbSNP Id:
rs765659201
ExAC:
16:1412934 G / C
gnomAD v2:
16-1412934-G-C
gnomAD v3:
16-1362933-G-C
gnomAD v4:
16-1362933-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362933G>C , CM000678.2:g.1362933G>C | GRCh38 |
| NC_000016.9:g.1412934G>C , CM000678.1:g.1412934G>C | GRCh37 |
| NC_000016.8:g.1352935G>C | NCBI36 |
| NG_016985.1:g.16035G>C | |
| NG_033129.1:g.56772C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.922+27G>C | ||
| ENST00000529110.2:c.907+27G>C | ENSP00000435349.2:n.907+27G>C | |
| ENST00000529957.6:n.881+27G>C | ||
| ENST00000683366.1:c.*555+27G>C | ENSP00000507283.1:n.*555+27G>C | |
| ENST00000683887.1:c.871+27G>C | ENSP00000506886.1:n.871+27G>C | |
| ENST00000684100.1:n.817+27G>C | ||
| ENST00000684126.1:n.957+27G>C | ||
| ENST00000684688.1:n.1448+27G>C | ||
| ENST00000204679.9:c.823+27G>C MANE Select | ENSP00000204679.4:n.823+27G>C | |
| ENST00000204679.8:c.823+27G>C | ENSP00000204679.4:n.823+27G>C | |
| ENST00000527076.1:n.2046+27G>C | ||
| ENST00000527168.5:n.990+27G>C | ||
| NM_032520.4:c.823+27G>C | NP_115909.1:n.823+27G>C | |
| XM_017023782.1:c.871+27G>C | XP_016879271.1:n.871+27G>C | |
| XM_017023783.1:c.463+27G>C | XP_016879272.1:n.463+27G>C | |
| NM_032520.5:c.823+27G>C MANE Select | NP_115909.1:n.823+27G>C |