Linked Data
ClinVar Variation Id:
1201838
ClinVar RCV Id:
RCV001567334
dbSNP Id:
rs56367014
gnomAD v2:
12-133253069-T-C
gnomAD v3:
12-132676483-T-C
gnomAD v4:
12-132676483-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132676483T>C , CM000674.2:g.132676483T>C | GRCh38 |
| NC_000012.11:g.133253069T>C , CM000674.1:g.133253069T>C | GRCh37 |
| NC_000012.10:g.131763142T>C | NCBI36 |
| NG_033840.1:g.16042A>G , LRG_789:g.16042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545015.2:n.936+63A>G | ||
| ENST00000699982.1:c.755+63A>G | ||
| ENST00000699983.1:c.755+63A>G | ||
| ENST00000699984.1:c.755+63A>G | ||
| ENST00000320574.10:c.909+63A>G MANE Select | ENSP00000322570.5:n.909+63A>G | |
| ENST00000672742.1:c.*403+63A>G | ENSP00000500279.1:n.*403+63A>G | |
| ENST00000320574.9:c.909+63A>G | ENSP00000322570.5:n.909+63A>G | |
| ENST00000535270.5:c.828+63A>G | ENSP00000445753.1:n.828+63A>G | |
| ENST00000535934.2:n.16A>G | ||
| ENST00000537064.5:c.909+63A>G | ENSP00000442578.1:n.909+63A>G | |
| NM_006231.3:c.909+63A>G , LRG_789t1:c.909+63A>G | NP_006222.2:n.909+63A>G | |
| XM_011534795.1:c.909+63A>G | XP_011533097.1:n.909+63A>G | |
| XM_011534796.1:c.780+63A>G | XP_011533098.1:n.780+63A>G | |
| XM_011534797.1:c.8+63A>G | XP_011533099.1:n.8+63A>G | |
| XM_011534799.1:c.909+63A>G | XP_011533101.1:n.909+63A>G | |
| XM_011534800.1:c.909+63A>G | XP_011533102.1:n.909+63A>G | |
| XM_011534801.1:c.909+63A>G | XP_011533103.1:n.909+63A>G | |
| XR_941395.1:n.1118+63A>G | ||
| XM_011534795.3:c.909+63A>G | XP_011533097.1:n.909+63A>G | |
| XM_011534797.3:c.8+63A>G | XP_011533099.1:n.8+63A>G | |
| XM_011534799.2:c.909+63A>G | XP_011533101.1:n.909+63A>G | |
| XR_002957338.1:n.1113+63A>G | ||
| XR_002957339.1:n.1113+63A>G | ||
| XR_941395.2:n.1113+63A>G | ||
| NM_006231.4:c.909+63A>G MANE Select | NP_006222.2:n.909+63A>G |