Linked Data
dbSNP Id:
rs368952341
gnomAD v2:
17-7989468-C-T
gnomAD v3:
17-8086150-C-T
gnomAD v4:
17-8086150-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086150C>T , CM000679.2:g.8086150C>T | GRCh38 |
| NC_000017.10:g.7989468C>T , CM000679.1:g.7989468C>T | GRCh37 |
| NC_000017.9:g.7930193C>T | NCBI36 |
| NG_007099.1:g.6554G>A | |
| NG_007099.2:g.6567G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.218G>A MANE Select | ENSP00000497784.1:p.Arg73Gln | |
| ENST00000319144.4:c.218G>A | ENSP00000315167.4:p.Arg73Gln | |
| NM_001139.2:c.218G>A | NP_001130.1:p.Arg73Gln | |
| NM_001139.3:c.218G>A MANE Select | NP_001130.1:p.Arg73Gln |