Linked Data
ClinVar Variation Id:
2850946
ClinVar RCV Id:
RCV003635282
dbSNP Id:
rs757950320
ExAC:
2:233398831 G / A
gnomAD v2:
2-233398831-G-A
gnomAD v3:
2-232534121-G-A
gnomAD v4:
2-232534121-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232534121G>A , CM000664.2:g.232534121G>A | GRCh38 |
| NC_000002.11:g.233398831G>A , CM000664.1:g.233398831G>A | GRCh37 |
| NC_000002.10:g.233107075G>A | NCBI36 |
| NG_008028.1:g.12910G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1238G>A MANE Select | ENSP00000258385.3:p.Arg413His | |
| ENST00000258385.7:c.1238G>A | ENSP00000258385.3:p.Arg413His | |
| ENST00000441621.6:c.*420G>A | ENSP00000408819.2:n.*420G>A | |
| ENST00000446616.1:c.*879G>A | ENSP00000410801.1:n.*879G>A | |
| ENST00000543200.5:c.1193G>A | ENSP00000438380.1:p.Arg398His | |
| NM_000751.2:c.1238G>A | NP_000742.1:p.Arg413His | |
| NM_001256657.1:c.1193G>A | NP_001243586.1:p.Arg398His | |
| NM_001311195.1:c.656G>A | NP_001298124.1:p.Arg219His | |
| NM_001311196.1:c.935G>A | NP_001298125.1:p.Arg312His | |
| NR_046333.1:c.-4294966313G>A | ||
| NR_046334.1:c.-4294966034G>A | ||
| XM_011510524.1:c.857G>A | XP_011508826.1:p.Arg286His | |
| XM_011510524.2:c.857G>A | XP_011508826.1:p.Arg286His | |
| NM_000751.3:c.1238G>A MANE Select | NP_000742.1:p.Arg413His | |
| NM_001311195.2:c.656G>A | NP_001298124.1:p.Arg219His | |
| NM_001311196.2:c.935G>A | NP_001298125.1:p.Arg312His | |
| NM_001256657.2:c.1193G>A | NP_001243586.1:p.Arg398His |