Linked Data
gnomAD v4:
7-5603300-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5603300G>C , CM000669.2:g.5603300G>C | GRCh38 |
| NC_000007.13:g.5642931G>C , CM000669.1:g.5642931G>C | GRCh37 |
| NC_000007.12:g.5609457G>C | NCBI36 |
| NG_030004.1:g.15496G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382361.8:c.876G>C MANE Select | ENSP00000371798.3:p.Glu292Asp | |
| ENST00000382361.7:c.876G>C | ENSP00000371798.3:p.Glu292Asp | |
| ENST00000405801.2:c.42G>C | ENSP00000383982.2:p.Glu14Asp | |
| ENST00000444748.5:c.42G>C | ENSP00000404506.1:p.Glu14Asp | |
| ENST00000447103.5:c.42G>C | ENSP00000409967.1:p.Glu14Asp | |
| ENST00000473330.1:n.429G>C | ||
| NM_003088.3:c.876G>C | NP_003079.1:p.Glu292Asp | |
| NM_003088.4:c.876G>C MANE Select | NP_003079.1:p.Glu292Asp |