Linked Data
dbSNP Id:
rs1206340769
gnomAD v2:
16-3294222-A-C
gnomAD v3:
16-3244222-A-C
gnomAD v4:
16-3244222-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3244222A>C , CM000678.2:g.3244222A>C | GRCh38 |
| NC_000016.9:g.3294222A>C , CM000678.1:g.3294222A>C | GRCh37 |
| NC_000016.8:g.3234223A>C | NCBI36 |
| NG_007871.1:g.17406T>G , LRG_190:g.17406T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.880+32T>G | ||
| ENST00000219596.6:c.1759+32T>G MANE Select | ENSP00000219596.1:n.1759+32T>G | |
| ENST00000219596.5:c.1759+32T>G | ENSP00000219596.1:n.1759+32T>G | |
| ENST00000339854.8:c.1219+32T>G | ENSP00000339639.4:n.1219+32T>G | |
| ENST00000536379.5:c.1126+32T>G | ENSP00000445079.1:n.1126+32T>G | |
| ENST00000536980.5:c.1158T>G | ENSP00000444178.1:p.Pro386= | |
| ENST00000537682.5:c.1791T>G | ENSP00000438611.1:p.Pro597= | |
| ENST00000538326.5:c.*384+32T>G | ENSP00000437486.1:n.*384+32T>G | |
| ENST00000539145.5:c.680+32T>G | ENSP00000444471.1:n.680+32T>G | |
| ENST00000541159.5:c.1126+32T>G | ENSP00000438711.1:n.1126+32T>G | |
| ENST00000542898.5:c.1884T>G | ENSP00000444615.1:p.Pro628= | |
| ENST00000570511.5:c.1165-330T>G | ENSP00000458312.1:n.1165-330T>G | |
| ENST00000572244.5:c.449+32T>G | ENSP00000461186.1:n.449+32T>G | |
| ENST00000574583.5:c.532-330T>G | ENSP00000460269.1:n.532-330T>G | |
| ENST00000576315.5:c.564+32T>G | ENSP00000460551.1:n.564+32T>G | |
| ENST00000621655.1:c.1126+32T>G | ENSP00000481436.1:n.1126+32T>G | |
| NM_000243.2:c.1759+32T>G , LRG_190t1:c.1759+32T>G | NP_000234.1:n.1759+32T>G | |
| NM_001198536.1:c.1126+32T>G | NP_001185465.1:n.1126+32T>G | |
| XM_017023236.2:c.1756+32T>G | XP_016878725.1:n.1756+32T>G | |
| XR_001751903.1:n.1980T>G | ||
| NM_000243.3:c.1759+32T>G MANE Select | NP_000234.1:n.1759+32T>G | |
| NM_001198536.2:c.1126+32T>G | NP_001185465.2:n.1126+32T>G |