Linked Data
ClinVar Variation Id:
716591
ClinVar RCV Id:
RCV000889261
dbSNP Id:
rs2288690
ExAC:
12:121659974 G / C
gnomAD v2:
12-121659974-G-C
gnomAD v3:
12-121222171-G-C
gnomAD v4:
12-121222171-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121222171G>C , CM000674.2:g.121222171G>C | GRCh38 |
| NC_000012.11:g.121659974G>C , CM000674.1:g.121659974G>C | GRCh37 |
| NC_000012.10:g.120144357G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337233.9:c.427+5G>C MANE Select | ENSP00000336607.4:n.427+5G>C | |
| ENST00000314442.7:n.4561+5G>C | ||
| ENST00000337233.8:c.427+5G>C | ENSP00000336607.4:n.427+5G>C | |
| ENST00000359949.11:c.475+5G>C | ENSP00000353032.7:n.475+5G>C | |
| ENST00000499638.6:n.468G>C | ||
| ENST00000538417.2:c.357+5G>C | ||
| ENST00000538701.5:c.135-6362G>C | ENSP00000444033.1:n.135-6362G>C | |
| ENST00000540930.5:n.463+5G>C | ||
| ENST00000541187.5:n.273+5G>C | ||
| ENST00000542067.5:c.427+5G>C | ENSP00000438329.1:n.427+5G>C | |
| ENST00000543171.5:c.427+5G>C | ENSP00000438131.2:n.427+5G>C | |
| ENST00000543318.5:c.427+5G>C | ENSP00000444274.1:n.427+5G>C | |
| ENST00000543430.5:n.475+5G>C | ||
| ENST00000543984.5:c.*120+5G>C | ENSP00000439386.1:n.*120+5G>C | |
| NM_001256796.1:c.475+5G>C | NP_001243725.1:n.475+5G>C | |
| NM_001261397.1:c.427+5G>C | NP_001248326.1:n.427+5G>C | |
| NM_001261398.1:c.427+5G>C | NP_001248327.1:n.427+5G>C | |
| NM_002560.2:c.427+5G>C | NP_002551.2:n.427+5G>C | |
| NR_046372.1:n.731+5G>C | ||
| NR_046373.1:n.583+5G>C | ||
| XM_011538416.1:c.135-6362G>C | XP_011536718.1:n.135-6362G>C | |
| XM_011538417.1:c.475+5G>C | XP_011536719.1:n.475+5G>C | |
| XR_944559.1:n.535+5G>C | ||
| XM_011538416.2:c.135-6362G>C | XP_011536718.1:n.135-6362G>C | |
| XR_001748726.2:n.481+5G>C | ||
| XR_001748727.1:n.544+5G>C | ||
| XR_001748728.1:n.544+5G>C | ||
| XR_001748729.2:n.481+5G>C | ||
| XR_944559.2:n.534+5G>C | ||
| NM_001256796.2:c.475+5G>C | NP_001243725.1:n.475+5G>C | |
| NM_001261397.2:c.427+5G>C | NP_001248326.1:n.427+5G>C | |
| NM_001261398.2:c.427+5G>C | NP_001248327.1:n.427+5G>C | |
| NM_002560.3:c.427+5G>C MANE Select | NP_002551.2:n.427+5G>C | |
| NR_046372.2:n.463+5G>C | ||
| NR_046373.2:n.315+5G>C |