Linked Data
ClinVar Variation Id:
2931201
ClinVar RCV Id:
RCV003782463
dbSNP Id:
rs1405734392
gnomAD v2:
1-201020107-C-G
gnomAD v4:
1-201050979-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201050979C>G , CM000663.2:g.201050979C>G | GRCh38 |
| NC_000001.10:g.201020107C>G , CM000663.1:g.201020107C>G | GRCh37 |
| NC_000001.9:g.199286730C>G | NCBI36 |
| NG_009816.1:g.66588G>C | |
| NG_009816.2:g.66588G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.4113+5G>C MANE Select | ENSP00000355192.3:n.4113+5G>C | |
| ENST00000679417.1:c.*3276+5G>C | ENSP00000506706.1:n.*3276+5G>C | |
| ENST00000680051.1:n.1239+5G>C | ||
| ENST00000680059.1:c.*1631+5G>C | ENSP00000504944.1:n.*1631+5G>C | |
| ENST00000681078.1:c.4113+5G>C | ENSP00000506645.1:n.4113+5G>C | |
| ENST00000681190.1:c.*295+5G>C | ENSP00000506428.1:n.*295+5G>C | |
| ENST00000681874.1:c.4053+5G>C | ENSP00000505162.1:n.4053+5G>C | |
| ENST00000362061.3:c.4113+5G>C | ENSP00000355192.3:n.4113+5G>C | |
| ENST00000367338.7:c.4056+5G>C | ENSP00000356307.3:n.4056+5G>C | |
| NM_000069.2:c.4113+5G>C | NP_000060.2:n.4113+5G>C | |
| XM_005245478.2:c.4056+5G>C | XP_005245535.1:n.4056+5G>C | |
| XM_005245478.3:c.4056+5G>C | XP_005245535.1:n.4056+5G>C | |
| NM_000069.3:c.4113+5G>C MANE Select | NP_000060.2:n.4113+5G>C |