Linked Data
dbSNP Id:
rs748609408
ExAC:
2:233406211 G / C
gnomAD v2:
2-233406211-G-C
gnomAD v3:
2-232541501-G-C
gnomAD v4:
2-232541501-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541501G>C , CM000664.2:g.232541501G>C | GRCh38 |
| NC_000002.11:g.233406211G>C , CM000664.1:g.233406211G>C | GRCh37 |
| NC_000002.10:g.233114455G>C | NCBI36 |
| NG_012954.1:g.6775G>C | |
| NG_012954.2:g.6810G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.478G>C MANE Select | ENSP00000498757.1:p.Asp160His | |
| ENST00000389492.3:c.350+790G>C | ENSP00000374143.3:n.350+790G>C | |
| ENST00000389494.7:c.478G>C | ENSP00000374145.3:p.Asp160His | |
| ENST00000485094.1:n.499G>C | ||
| NM_005199.4:c.478G>C | NP_005190.4:p.Asp160His | |
| NM_005199.5:c.478G>C MANE Select | NP_005190.4:p.Asp160His |