Linked Data
ClinVar Variation Id:
2857
ClinVar RCV Id:
RCV000002991
dbSNP Id:
rs28940270
gnomAD v2:
2-215846949-C-T
gnomAD v3:
2-214982225-C-T
gnomAD v4:
2-214982225-C-T
PubMed:
PMID:12915478
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214982225C>T , CM000664.2:g.214982225C>T | GRCh38 |
| NC_000002.11:g.215846949C>T , CM000664.1:g.215846949C>T | GRCh37 |
| NC_000002.10:g.215555194C>T | NCBI36 |
| NG_007074.1:g.161203G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.4541G>A MANE Select | ENSP00000272895.7:p.Arg1514His | |
| ENST00000272895.11:c.4541G>A | ENSP00000272895.7:p.Arg1514His | |
| ENST00000389661.4:c.3587G>A | ENSP00000374312.4:p.Arg1196His | |
| NM_015657.3:c.3587G>A | NP_056472.2:p.Arg1196His | |
| NM_173076.2:c.4541G>A | NP_775099.2:p.Arg1514His | |
| NR_103740.1:n.4841G>A | ||
| XM_011510951.1:c.4550G>A | XP_011509253.1:p.Arg1517His | |
| XM_011510952.1:c.4550G>A | XP_011509254.1:p.Arg1517His | |
| XM_011510951.2:c.4550G>A | XP_011509253.1:p.Arg1517His | |
| NM_173076.3:c.4541G>A MANE Select | NP_775099.2:p.Arg1514His | |
| NR_103740.2:n.5039G>A | ||
| NM_015657.4:c.3587G>A | NP_056472.2:p.Arg1196His |