Linked Data
ClinVar Variation Id:
439888
dbSNP Id:
rs370349451
ExAC:
16:3294243 G / A
gnomAD v2:
16-3294243-G-A
gnomAD v3:
16-3244243-G-A
gnomAD v4:
16-3244243-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3244243G>A , CM000678.2:g.3244243G>A | GRCh38 |
| NC_000016.9:g.3294243G>A , CM000678.1:g.3294243G>A | GRCh37 |
| NC_000016.8:g.3234244G>A | NCBI36 |
| NG_007871.1:g.17385C>T , LRG_190:g.17385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.880+11C>T | ||
| ENST00000219596.6:c.1759+11C>T MANE Select | ENSP00000219596.1:n.1759+11C>T | |
| ENST00000219596.5:c.1759+11C>T | ENSP00000219596.1:n.1759+11C>T | |
| ENST00000339854.8:c.1219+11C>T | ENSP00000339639.4:n.1219+11C>T | |
| ENST00000536379.5:c.1126+11C>T | ENSP00000445079.1:n.1126+11C>T | |
| ENST00000536980.5:c.1137C>T | ENSP00000444178.1:p.Ser379= | |
| ENST00000537682.5:c.1770C>T | ENSP00000438611.1:p.Ser590= | |
| ENST00000538326.5:c.*384+11C>T | ENSP00000437486.1:n.*384+11C>T | |
| ENST00000539145.5:c.680+11C>T | ENSP00000444471.1:n.680+11C>T | |
| ENST00000541159.5:c.1126+11C>T | ENSP00000438711.1:n.1126+11C>T | |
| ENST00000542898.5:c.1863C>T | ENSP00000444615.1:p.Ser621= | |
| ENST00000570511.5:c.1165-351C>T | ENSP00000458312.1:n.1165-351C>T | |
| ENST00000572244.5:c.449+11C>T | ENSP00000461186.1:n.449+11C>T | |
| ENST00000574583.5:c.532-351C>T | ENSP00000460269.1:n.532-351C>T | |
| ENST00000576315.5:c.564+11C>T | ENSP00000460551.1:n.564+11C>T | |
| ENST00000621655.1:c.1126+11C>T | ENSP00000481436.1:n.1126+11C>T | |
| NM_000243.2:c.1759+11C>T , LRG_190t1:c.1759+11C>T | NP_000234.1:n.1759+11C>T | |
| NM_001198536.1:c.1126+11C>T | NP_001185465.1:n.1126+11C>T | |
| XM_017023236.2:c.1756+11C>T | XP_016878725.1:n.1756+11C>T | |
| XR_001751903.1:n.1959C>T | ||
| NM_000243.3:c.1759+11C>T MANE Select | NP_000234.1:n.1759+11C>T | |
| NM_001198536.2:c.1126+11C>T | NP_001185465.2:n.1126+11C>T |