Linked Data
dbSNP Id:
rs781614031
ExAC:
8:19811636 G / C
gnomAD v2:
8-19811636-G-C
gnomAD v4:
8-19954125-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954125G>C , CM000670.2:g.19954125G>C | GRCh38 |
| NC_000008.10:g.19811636G>C , CM000670.1:g.19811636G>C | GRCh37 |
| NC_000008.9:g.19855916G>C | NCBI36 |
| NG_008855.1:g.20055G>C | |
| NG_008855.2:g.57409G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.547G>C MANE Select | ENSP00000497642.1:p.Asp183His | |
| ENST00000311322.8:c.547G>C | ENSP00000309757.6:p.Asp183His | |
| ENST00000520959.5:c.319G>C | ENSP00000428496.1:p.Asp107His | |
| NM_000237.2:c.547G>C | NP_000228.1:p.Asp183His | |
| NM_000237.3:c.547G>C MANE Select | NP_000228.1:p.Asp183His |