Linked Data
dbSNP Id:
rs754838766
ExAC:
16:3294194 C / G
gnomAD v2:
16-3294194-C-G
gnomAD v4:
16-3244194-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3244194C>G , CM000678.2:g.3244194C>G | GRCh38 |
| NC_000016.9:g.3294194C>G , CM000678.1:g.3294194C>G | GRCh37 |
| NC_000016.8:g.3234195C>G | NCBI36 |
| NG_007871.1:g.17434G>C , LRG_190:g.17434G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.880+60G>C | ||
| ENST00000219596.6:c.1759+60G>C MANE Select | ENSP00000219596.1:n.1759+60G>C | |
| ENST00000219596.5:c.1759+60G>C | ENSP00000219596.1:n.1759+60G>C | |
| ENST00000339854.8:c.1219+60G>C | ENSP00000339639.4:n.1219+60G>C | |
| ENST00000536379.5:c.1126+60G>C | ENSP00000445079.1:n.1126+60G>C | |
| ENST00000536980.5:c.1186G>C | ENSP00000444178.1:p.Val396Leu | |
| ENST00000537682.5:c.1819G>C | ENSP00000438611.1:p.Val607Leu | |
| ENST00000538326.5:c.*384+60G>C | ENSP00000437486.1:n.*384+60G>C | |
| ENST00000539145.5:c.680+60G>C | ENSP00000444471.1:n.680+60G>C | |
| ENST00000541159.5:c.1126+60G>C | ENSP00000438711.1:n.1126+60G>C | |
| ENST00000542898.5:c.1912G>C | ENSP00000444615.1:p.Val638Leu | |
| ENST00000570511.5:c.1165-302G>C | ENSP00000458312.1:n.1165-302G>C | |
| ENST00000572244.5:c.449+60G>C | ENSP00000461186.1:n.449+60G>C | |
| ENST00000574583.5:c.532-302G>C | ENSP00000460269.1:n.532-302G>C | |
| ENST00000576315.5:c.564+60G>C | ENSP00000460551.1:n.564+60G>C | |
| ENST00000621655.1:c.1126+60G>C | ENSP00000481436.1:n.1126+60G>C | |
| NM_000243.2:c.1759+60G>C , LRG_190t1:c.1759+60G>C | NP_000234.1:n.1759+60G>C | |
| NM_001198536.1:c.1126+60G>C | NP_001185465.1:n.1126+60G>C | |
| XM_017023236.2:c.1756+60G>C | XP_016878725.1:n.1756+60G>C | |
| XR_001751903.1:n.2008G>C | ||
| NM_000243.3:c.1759+60G>C MANE Select | NP_000234.1:n.1759+60G>C | |
| NM_001198536.2:c.1126+60G>C | NP_001185465.2:n.1126+60G>C |