Linked Data
gnomAD v4:
19-7527543-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527543G>C , CM000681.2:g.7527543G>C | GRCh38 |
| NC_000019.9:g.7592429G>C , CM000681.1:g.7592429G>C | GRCh37 |
| NC_000019.8:g.7498429G>C | NCBI36 |
| NG_015806.1:g.9934G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.595G>C MANE Select | ENSP00000264079.5:p.Glu199Gln | |
| ENST00000264079.10:c.595G>C | ENSP00000264079.5:p.Glu199Gln | |
| ENST00000394321.9:n.675G>C | ||
| ENST00000598406.1:n.416G>C | ||
| ENST00000601003.1:c.572-321G>C | ENSP00000469074.1:n.572-321G>C | |
| NM_020533.2:c.595G>C | NP_065394.1:p.Glu199Gln | |
| NM_020533.3:c.595G>C MANE Select | NP_065394.1:p.Glu199Gln |