Linked Data
ClinVar Variation Id:
1530174
ClinVar RCV Id:
RCV002080193
dbSNP Id:
rs917769808
gnomAD v2:
16-3293911-T-C
gnomAD v4:
16-3243911-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243911T>C , CM000678.2:g.3243911T>C | GRCh38 |
| NC_000016.9:g.3293911T>C , CM000678.1:g.3293911T>C | GRCh37 |
| NC_000016.8:g.3233912T>C | NCBI36 |
| NG_007871.1:g.17717A>G , LRG_190:g.17717A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.881-19A>G | ||
| ENST00000219596.6:c.1760-19A>G MANE Select | ENSP00000219596.1:n.1760-19A>G | |
| ENST00000219596.5:c.1760-19A>G | ENSP00000219596.1:n.1760-19A>G | |
| ENST00000339854.8:c.1220-19A>G | ENSP00000339639.4:n.1220-19A>G | |
| ENST00000536379.5:c.1127-19A>G | ENSP00000445079.1:n.1127-19A>G | |
| ENST00000536980.5:c.*36-19A>G | ENSP00000444178.1:n.*36-19A>G | |
| ENST00000537682.5:c.*36-19A>G | ENSP00000438611.1:n.*36-19A>G | |
| ENST00000538326.5:c.*385-19A>G | ENSP00000437486.1:n.*385-19A>G | |
| ENST00000539145.5:c.681-19A>G | ENSP00000444471.1:n.681-19A>G | |
| ENST00000541159.5:c.1283A>G | ENSP00000438711.1:p.Tyr428Cys | |
| ENST00000542898.5:c.*36-19A>G | ENSP00000444615.1:n.*36-19A>G | |
| ENST00000570511.5:c.1165-19A>G | ENSP00000458312.1:n.1165-19A>G | |
| ENST00000572244.5:c.450-19A>G | ENSP00000461186.1:n.450-19A>G | |
| ENST00000574583.5:c.532-19A>G | ENSP00000460269.1:n.532-19A>G | |
| ENST00000576315.5:c.565-19A>G | ENSP00000460551.1:n.565-19A>G | |
| ENST00000621655.1:c.1278A>G | ENSP00000481436.1:n.1278A>G | |
| NM_000243.2:c.1760-19A>G , LRG_190t1:c.1760-19A>G | NP_000234.1:n.1760-19A>G | |
| NM_001198536.1:c.1283A>G | NP_001185465.1:p.Tyr428Cys | |
| XM_017023236.2:c.1757-19A>G | XP_016878725.1:n.1757-19A>G | |
| XR_001751903.1:n.2067-19A>G | ||
| NM_000243.3:c.1760-19A>G MANE Select | NP_000234.1:n.1760-19A>G | |
| NM_001198536.2:c.1283A>G | NP_001185465.2:p.Tyr428Cys |