Linked Data
dbSNP Id:
rs756501505
ExAC:
19:7592420 G / C
gnomAD v2:
19-7592420-G-C
gnomAD v4:
19-7527534-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527534G>C , CM000681.2:g.7527534G>C | GRCh38 |
| NC_000019.9:g.7592420G>C , CM000681.1:g.7592420G>C | GRCh37 |
| NC_000019.8:g.7498420G>C | NCBI36 |
| NG_015806.1:g.9925G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.586G>C MANE Select | ENSP00000264079.5:p.Asp196His | |
| ENST00000264079.10:c.586G>C | ENSP00000264079.5:p.Asp196His | |
| ENST00000394321.9:n.666G>C | ||
| ENST00000598406.1:n.407G>C | ||
| ENST00000601003.1:c.572-330G>C | ENSP00000469074.1:n.572-330G>C | |
| NM_020533.2:c.586G>C | NP_065394.1:p.Asp196His | |
| NM_020533.3:c.586G>C MANE Select | NP_065394.1:p.Asp196His |