Linked Data
dbSNP Id:
rs374455781
ExAC:
5:56178095 G / A
gnomAD v2:
5-56178095-G-A
gnomAD v3:
5-56882268-G-A
gnomAD v4:
5-56882268-G-A
COSMIC:
COSM5633998
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56882268G>A , CM000667.2:g.56882268G>A | GRCh38 |
| NC_000005.9:g.56178095G>A , CM000667.1:g.56178095G>A | GRCh37 |
| NC_000005.8:g.56213852G>A | NCBI36 |
| NG_031884.1:g.72196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.3068G>A MANE Select | ENSP00000382423.3:p.Arg1023His | |
| ENST00000399503.3:c.3068G>A | ENSP00000382423.3:p.Arg1023His | |
| NM_005921.1:c.3068G>A | NP_005912.1:p.Arg1023His | |
| XM_005248519.3:c.2690G>A | XP_005248576.2:p.Arg897His | |
| XM_011543406.1:c.2813G>A | XP_011541708.1:p.Arg938His | |
| XM_011543407.1:c.2789G>A | XP_011541709.1:p.Arg930His | |
| XM_011543408.1:c.3068G>A | XP_011541710.1:p.Arg1023His | |
| XM_017009484.1:c.2657G>A | XP_016864973.1:p.Arg886His | |
| XM_017009485.1:c.2579G>A | XP_016864974.1:p.Arg860His | |
| XR_001742068.2:n.3099G>A | ||
| NM_005921.2:c.3068G>A MANE Select | NP_005912.1:p.Arg1023His |