Linked Data
gnomAD v4:
10-119676643-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119676643G>C , CM000672.2:g.119676643G>C | GRCh38 |
| NC_000010.10:g.121436155G>C , CM000672.1:g.121436155G>C | GRCh37 |
| NC_000010.9:g.121426145G>C | NCBI36 |
| NG_016125.1:g.30274G>C , LRG_742:g.30274G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.1089G>C MANE Select | ENSP00000358081.4:p.Glu363Asp | |
| ENST00000369085.7:c.1089G>C | ENSP00000358081.3:p.Glu363Asp | |
| ENST00000450186.1:c.912G>C | ENSP00000410036.1:p.Glu304Asp | |
| NM_004281.3:c.1089G>C , LRG_742t1:c.1089G>C | NP_004272.2:p.Glu363Asp | |
| XM_005270287.1:c.1086G>C | XP_005270344.1:p.Glu362Asp | |
| XM_005270287.2:c.1086G>C | XP_005270344.1:p.Glu362Asp | |
| NM_004281.4:c.1089G>C MANE Select | NP_004272.2:p.Glu363Asp |