Linked Data
gnomAD v4:
17-74763520-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763520G>C , CM000679.2:g.74763520G>C | GRCh38 |
| NC_000017.10:g.72759659G>C , CM000679.1:g.72759659G>C | GRCh37 |
| NC_000017.9:g.70271254G>C | NCBI36 |
| NG_013022.1:g.19897G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.757G>C MANE Select | ENSP00000262613.5:p.Gly253Arg | |
| ENST00000262613.9:c.757G>C | ENSP00000262613.5:p.Gly253Arg | |
| ENST00000413388.2:c.289G>C | ENSP00000464982.1:p.Gly97Arg | |
| ENST00000578958.1:n.491G>C | ||
| ENST00000581356.1:c.93G>C | ||
| ENST00000583369.5:c.442-4627G>C | ENSP00000464321.1:n.442-4627G>C | |
| NM_004252.4:c.757G>C | NP_004243.1:p.Gly253Arg | |
| XR_002958087.1:n.976G>C | ||
| NM_004252.5:c.757G>C MANE Select | NP_004243.1:p.Gly253Arg |