Linked Data
dbSNP Id:
rs759004842
ExAC:
19:7589933 G / C
gnomAD v2:
19-7589933-G-C
gnomAD v3:
19-7525047-G-C
gnomAD v4:
19-7525047-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525047G>C , CM000681.2:g.7525047G>C | GRCh38 |
| NC_000019.9:g.7589933G>C , CM000681.1:g.7589933G>C | GRCh37 |
| NC_000019.8:g.7495933G>C | NCBI36 |
| NG_015806.1:g.7438G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.118G>C MANE Select | ENSP00000264079.5:p.Asp40His | |
| ENST00000264079.10:c.118G>C | ENSP00000264079.5:p.Asp40His | |
| ENST00000394321.9:n.198G>C | ||
| ENST00000596390.1:n.234G>C | ||
| ENST00000601003.1:c.118G>C | ENSP00000469074.1:p.Asp40His | |
| NM_020533.2:c.118G>C | NP_065394.1:p.Asp40His | |
| NM_020533.3:c.118G>C MANE Select | NP_065394.1:p.Asp40His |