Linked Data
ClinVar Variation Id:
161773
ClinVar RCV Id:
RCV000149309
dbSNP Id:
rs193921081
ExAC:
10:105944864 T / C
gnomAD v2:
10-105944864-T-C
gnomAD v4:
10-104185106-T-C
COSMIC:
COSM1178228
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104185106T>C , CM000672.2:g.104185106T>C | GRCh38 |
| NC_000010.10:g.105944864T>C , CM000672.1:g.105944864T>C | GRCh37 |
| NC_000010.9:g.105934854T>C | NCBI36 |
| NG_051581.1:g.52272A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278064.7:c.2054A>G | ENSP00000278064.3:p.His685Arg | |
| ENST00000357060.8:c.2051A>G MANE Select | ENSP00000349568.3:p.His684Arg | |
| ENST00000278064.6:c.1844A>G | ENSP00000278064.2:p.His615Arg | |
| ENST00000357060.7:c.2051A>G | ENSP00000349568.3:p.His684Arg | |
| ENST00000434629.5:c.133A>G | ||
| NM_025145.5:c.2051A>G | NP_079421.5:p.His684Arg | |
| XM_005270171.1:c.2054A>G | XP_005270228.1:p.His685Arg | |
| XM_005270172.2:c.2054A>G | XP_005270229.1:p.His685Arg | |
| XM_011540196.1:c.2054A>G | XP_011538498.1:p.His685Arg | |
| XM_011540197.1:c.2054A>G | XP_011538499.1:p.His685Arg | |
| XM_011540198.1:c.1937A>G | XP_011538500.1:p.His646Arg | |
| XM_011540199.1:c.2054A>G | XP_011538501.1:p.His685Arg | |
| XM_011540200.1:c.2054A>G | XP_011538502.1:p.His685Arg | |
| XM_011540201.1:c.2054A>G | XP_011538503.1:p.His685Arg | |
| XM_011540202.1:c.1283A>G | XP_011538504.1:p.His428Arg | |
| NM_025145.6:c.2051A>G | NP_079421.5:p.His684Arg | |
| XM_005270171.2:c.2054A>G | XP_005270228.1:p.His685Arg | |
| XM_005270172.3:c.2054A>G | XP_005270229.1:p.His685Arg | |
| XM_011540196.2:c.2054A>G | XP_011538498.1:p.His685Arg | |
| XM_011540197.2:c.2054A>G | XP_011538499.1:p.His685Arg | |
| XM_011540198.2:c.1937A>G | XP_011538500.1:p.His646Arg | |
| XM_011540199.2:c.2054A>G | XP_011538501.1:p.His685Arg | |
| XM_011540200.2:c.2054A>G | XP_011538502.1:p.His685Arg | |
| XM_011540201.2:c.2054A>G | XP_011538503.1:p.His685Arg | |
| XM_011540202.2:c.1283A>G | XP_011538504.1:p.His428Arg | |
| XM_017016681.1:c.2051A>G | XP_016872170.1:p.His684Arg | |
| XM_017016682.1:c.1937A>G | XP_016872171.1:p.His646Arg | |
| XM_017016684.1:c.2054A>G | XP_016872173.1:p.His685Arg | |
| XM_024448177.1:c.440A>G | XP_024303945.1:p.His147Arg | |
| XM_024448178.1:c.-180A>G | XP_024303946.1:n.-180A>G | |
| XR_002957015.1:n.1937A>G | ||
| NM_025145.7:c.2051A>G MANE Select | NP_079421.5:p.His684Arg |