Linked Data
ClinVar Variation Id:
218331
ClinVar RCV Id:
RCV000202579
dbSNP Id:
rs864309513
gnomAD v4:
6-31861452-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31861452T>C , CM000668.2:g.31861452T>C | GRCh38 |
| NC_000006.11:g.31829229T>C , CM000668.1:g.31829229T>C | GRCh37 |
| NC_000006.10:g.31937208T>C | NCBI36 |
| NG_008201.1:g.6481A>G | |
| NG_023058.1:g.22595A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.353-2A>G MANE Select | ENSP00000364782.4:n.353-2A>G | |
| ENST00000677054.1:n.1028A>G | ||
| ENST00000677512.1:n.461-2A>G | ||
| ENST00000678869.1:n.461-2A>G | ||
| ENST00000375631.4:c.353-2A>G | ENSP00000364782.4:n.353-2A>G | |
| ENST00000480384.1:n.382-2A>G | ||
| ENST00000491768.5:c.353-2A>G | ENSP00000433127.1:n.353-2A>G | |
| ENST00000495807.1:n.919A>G | ||
| NM_000434.3:c.353-2A>G | NP_000425.1:n.353-2A>G | |
| NM_000434.4:c.353-2A>G MANE Select | NP_000425.1:n.353-2A>G |