Linked Data
dbSNP Id:
rs767772329
ExAC:
4:4862067 G / C
gnomAD v2:
4-4862067-G-C
gnomAD v3:
4-4860340-G-C
gnomAD v4:
4-4860340-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4860340G>C , CM000666.2:g.4860340G>C | GRCh38 |
| NC_000004.11:g.4862067G>C , CM000666.1:g.4862067G>C | GRCh37 |
| NC_000004.10:g.4912968G>C | NCBI36 |
| NG_008121.1:g.5676G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.441G>C MANE Select | ENSP00000372170.4:p.Gln147His | |
| ENST00000382723.4:c.441G>C | ENSP00000372170.4:p.Gln147His | |
| NM_002448.3:c.441G>C MANE Select | NP_002439.2:p.Gln147His |