Linked Data
dbSNP Id:
rs1470392988
gnomAD v2:
17-4637798-A-C
gnomAD v3:
17-4734503-A-C
gnomAD v4:
17-4734503-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734503A>C , CM000679.2:g.4734503A>C | GRCh38 |
| NC_000017.10:g.4637798A>C , CM000679.1:g.4637798A>C | GRCh37 |
| NC_000017.9:g.4584547A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*24-24T>G MANE Select | ENSP00000293778.7:n.*24-24T>G | |
| ENST00000574412.6:c.*103T>G | ENSP00000459592.2:n.*103T>G | |
| ENST00000293778.10:c.*24-24T>G | ENSP00000293778.6:n.*24-24T>G | |
| ENST00000574412.5:c.*103T>G | ENSP00000459592.1:n.*103T>G | |
| ENST00000576153.5:n.580-24T>G | ||
| NM_022059.3:c.*24-24T>G | NP_071342.2:n.*24-24T>G | |
| NM_022059.4:c.*24-24T>G | NP_071342.2:n.*24-24T>G | |
| NM_001386809.1:c.*24-24T>G MANE Select | NP_001373738.1:n.*24-24T>G |