Linked Data
ClinVar Variation Id:
356226
ClinVar RCV Id:
RCV000374624
dbSNP Id:
rs886061287
gnomAD v2:
6-31827042-T-C
gnomAD v3:
6-31859265-T-C
gnomAD v4:
6-31859265-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859265T>C , CM000668.2:g.31859265T>C | GRCh38 |
| NC_000006.11:g.31827042T>C , CM000668.1:g.31827042T>C | GRCh37 |
| NC_000006.10:g.31935021T>C | NCBI36 |
| NG_008201.1:g.8668A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.*454A>G MANE Select | ENSP00000364782.4:n.*454A>G | |
| ENST00000677054.1:n.3041A>G | ||
| ENST00000678869.1:n.2290A>G | ||
| ENST00000375631.4:c.*454A>G | ENSP00000364782.4:n.*454A>G | |
| ENST00000480384.1:n.2001A>G | ||
| ENST00000491768.5:c.*812A>G | ENSP00000433127.1:n.*812A>G | |
| ENST00000495807.1:n.3010A>G | ||
| NM_000434.3:c.*454A>G | NP_000425.1:n.*454A>G | |
| NM_000434.4:c.*454A>G MANE Select | NP_000425.1:n.*454A>G |