Linked Data
ClinVar Variation Id:
326032
ClinVar RCV Id:
RCV000374199
dbSNP Id:
rs183725401
gnomAD v2:
17-8130293-A-C
gnomAD v3:
17-8226975-A-C
gnomAD v4:
17-8226975-A-C
COSMIC:
COSN21388139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8226975A>C , CM000679.2:g.8226975A>C | GRCh38 |
| NC_000017.10:g.8130293A>C , CM000679.1:g.8130293A>C | GRCh37 |
| NC_000017.9:g.8071018A>C | NCBI36 |
| NG_032148.1:g.26121T>G | |
| NG_032148.2:g.26121T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699849.1:c.*1205T>G | ENSP00000514647.1:n.*1205T>G | |
| ENST00000699850.1:n.4791T>G | ||
| ENST00000699851.1:n.5745T>G | ||
| ENST00000699852.1:c.*3372T>G | ENSP00000514648.1:n.*3372T>G | |
| ENST00000699853.1:c.*1444T>G | ENSP00000514649.1:n.*1444T>G | |
| ENST00000449476.7:c.*1593T>G | ENSP00000396018.2:n.*1593T>G | |
| ENST00000643543.1:c.*3566T>G | ENSP00000494323.1:n.*3566T>G | |
| ENST00000651323.1:c.*1205T>G MANE Select | ENSP00000498499.1:n.*1205T>G | |
| ENST00000315684.12:c.*1205T>G | ENSP00000313759.8:n.*1205T>G | |
| ENST00000449476.6:c.*1593T>G | ENSP00000396018.2:n.*1593T>G | |
| NM_025099.5:c.*1205T>G | NP_079375.3:n.*1205T>G | |
| NR_046431.1:n.4748T>G | ||
| XM_006721577.2:c.*1205T>G | XP_006721640.1:n.*1205T>G | |
| XM_006721578.2:c.*1205T>G | XP_006721641.1:n.*1205T>G | |
| XM_011524010.1:c.*1205T>G | XP_011522312.1:n.*1205T>G | |
| XM_011524011.1:c.*1205T>G | XP_011522313.1:n.*1205T>G | |
| XR_429823.2:n.4736T>G | ||
| XR_429824.2:n.4837T>G | ||
| NM_025099.6:c.*1205T>G MANE Select | NP_079375.3:n.*1205T>G | |
| XM_006721577.3:c.*1205T>G | XP_006721640.1:n.*1205T>G | |
| XM_006721578.3:c.*1205T>G | XP_006721641.1:n.*1205T>G | |
| XM_011524010.2:c.*1205T>G | XP_011522312.1:n.*1205T>G | |
| XM_011524011.2:c.*1205T>G | XP_011522313.1:n.*1205T>G | |
| XR_001752639.1:n.4710T>G | ||
| XR_001752640.1:n.4858T>G | ||
| XR_001752641.1:n.4793T>G | ||
| XR_001752642.1:n.4643T>G | ||
| XR_002958073.1:n.5149T>G | ||
| XR_429823.3:n.4736T>G | ||
| XR_429824.3:n.4837T>G | ||
| NR_046431.2:n.4709T>G |