Linked Data
ClinVar Variation Id:
10334
ClinVar RCV Id:
RCV000011047
dbSNP Id:
rs137852474
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837685C>T , CM000685.2:g.154837685C>T | GRCh38 |
| NC_000023.10:g.154065960C>T , CM000685.1:g.154065960C>T | GRCh37 |
| NC_000023.9:g.153719154C>T | NCBI36 |
| NG_011403.1:g.190039G>A | |
| NG_033065.1:g.1978G>A | |
| NG_011403.2:g.190039G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.6968G>A MANE Select | ENSP00000353393.4:p.Arg2323His | |
| ENST00000644698.1:c.701G>A | ENSP00000495706.1:p.Arg234His | |
| ENST00000330287.10:c.563G>A | ENSP00000327895.6:p.Arg188His | |
| ENST00000360256.8:c.6968G>A | ENSP00000353393.4:p.Arg2323His | |
| NM_000132.3:c.6968G>A | NP_000123.1:p.Arg2323His | |
| NM_019863.2:c.563G>A | NP_063916.1:p.Arg188His | |
| XM_011531126.1:c.6863G>A | XP_011529428.1:p.Arg2288His | |
| NM_000132.4:c.6968G>A MANE Select | NP_000123.1:p.Arg2323His | |
| NM_019863.3:c.563G>A | NP_063916.1:p.Arg188His |