Linked Data
gnomAD v4:
10-93640937-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93640937G>C , CM000672.2:g.93640937G>C | GRCh38 |
| NC_000010.10:g.95400694G>C , CM000672.1:g.95400694G>C | GRCh37 |
| NC_000010.9:g.95390684G>C | NCBI36 |
| NG_016752.1:g.33350G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371447.4:c.1755G>C MANE Select | ENSP00000360502.3:p.Lys585Asn | |
| ENST00000371447.3:c.1755G>C | ENSP00000360502.3:p.Lys585Asn | |
| NM_006204.3:c.1755G>C | NP_006195.3:p.Lys585Asn | |
| NM_006204.4:c.1755G>C MANE Select | NP_006195.3:p.Lys585Asn |