Linked Data
ClinVar Variation Id:
126564
ClinVar RCV Id:
RCV000114433
dbSNP Id:
rs587777303
gnomAD v4:
6-166165800-T-C
PubMed:
PMID:24253444
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.166165800T>C , CM000668.2:g.166165800T>C | GRCh38 |
| NC_000006.11:g.166579288T>C , CM000668.1:g.166579288T>C | GRCh37 |
| NC_000006.10:g.166499278T>C | NCBI36 |
| NG_012135.1:g.7844A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366876.7:c.512A>G MANE Select | ENSP00000355841.3:p.His171Arg | |
| ENST00000296946.6:c.512A>G | ENSP00000296946.2:p.His171Arg | |
| ENST00000366871.7:c.512A>G | ENSP00000355836.3:p.His171Arg | |
| ENST00000366876.6:c.512A>G | ENSP00000355841.2:p.His171Arg | |
| ENST00000461348.2:c.512A>G | ENSP00000453512.1:p.His171Arg | |
| NM_001270484.1:c.512A>G | NP_001257413.1:p.His171Arg | |
| NM_003181.3:c.512A>G | NP_003172.1:p.His171Arg | |
| XM_011536080.1:c.512A>G | XP_011534382.1:p.His171Arg | |
| XM_011536081.1:c.512A>G | XP_011534383.1:p.His171Arg | |
| NM_001366285.1:c.512A>G | NP_001353214.1:p.His171Arg | |
| NM_001366286.1:c.512A>G | NP_001353215.1:p.His171Arg | |
| NM_001270484.2:c.512A>G | NP_001257413.1:p.His171Arg | |
| NM_001366285.2:c.512A>G MANE Select | NP_001353214.1:p.His171Arg | |
| NM_001366286.2:c.512A>G | NP_001353215.1:p.His171Arg | |
| NM_003181.4:c.512A>G | NP_003172.1:p.His171Arg |