Linked Data
dbSNP Id:
rs117489832
ExAC:
16:1412549 C / G
gnomAD v2:
16-1412549-C-G
gnomAD v4:
16-1362548-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362548C>G , CM000678.2:g.1362548C>G | GRCh38 |
| NC_000016.9:g.1412549C>G , CM000678.1:g.1412549C>G | GRCh37 |
| NC_000016.8:g.1352550C>G | NCBI36 |
| NG_016985.1:g.15650C>G | |
| NG_033129.1:g.57157G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.708+14C>G | ||
| ENST00000529110.2:c.693+14C>G | ENSP00000435349.2:n.693+14C>G | |
| ENST00000529957.6:n.667+14C>G | ||
| ENST00000683366.1:c.*341+14C>G | ENSP00000507283.1:n.*341+14C>G | |
| ENST00000683887.1:c.657+14C>G | ENSP00000506886.1:n.657+14C>G | |
| ENST00000684100.1:n.603+14C>G | ||
| ENST00000684126.1:n.681C>G | ||
| ENST00000684688.1:n.1234+14C>G | ||
| ENST00000204679.9:c.609+14C>G MANE Select | ENSP00000204679.4:n.609+14C>G | |
| ENST00000204679.8:c.609+14C>G | ENSP00000204679.4:n.609+14C>G | |
| ENST00000527076.1:n.1770C>G | ||
| ENST00000527168.5:n.776+14C>G | ||
| ENST00000529957.5:n.708+14C>G | ||
| NM_032520.4:c.609+14C>G | NP_115909.1:n.609+14C>G | |
| XM_017023782.1:c.657+14C>G | XP_016879271.1:n.657+14C>G | |
| XM_017023783.1:c.249+14C>G | XP_016879272.1:n.249+14C>G | |
| NM_032520.5:c.609+14C>G MANE Select | NP_115909.1:n.609+14C>G |