Linked Data
ClinVar Variation Id:
10320
ClinVar RCV Id:
RCV000011033
dbSNP Id:
rs137852466
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863112C>T , CM000685.2:g.154863112C>T | GRCh38 |
| NC_000023.10:g.154091387C>T , CM000685.1:g.154091387C>T | GRCh37 |
| NC_000023.9:g.153744581C>T | NCBI36 |
| NG_011403.1:g.164612G>A | |
| NG_011403.2:g.164612G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6545G>A MANE Select | ENSP00000353393.4:p.Arg2182His | |
| ENST00000644698.1:c.278G>A | ENSP00000495706.1:p.Arg93His | |
| ENST00000330287.10:c.140G>A | ENSP00000327895.6:p.Arg47His | |
| ENST00000360256.8:c.6545G>A | ENSP00000353393.4:p.Arg2182His | |
| NM_000132.3:c.6545G>A | NP_000123.1:p.Arg2182His | |
| NM_019863.2:c.140G>A | NP_063916.1:p.Arg47His | |
| XM_011531126.1:c.6440G>A | XP_011529428.1:p.Arg2147His | |
| NM_000132.4:c.6545G>A MANE Select | NP_000123.1:p.Arg2182His | |
| NM_019863.3:c.140G>A | NP_063916.1:p.Arg47His |