Linked Data
ClinVar Variation Id:
523147
ClinVar RCV Id:
RCV000626420
dbSNP Id:
rs760609580
ExAC:
10:105921781 G / A
gnomAD v2:
10-105921781-G-A
gnomAD v3:
10-104162023-G-A
gnomAD v4:
10-104162023-G-A
COSMIC:
COSM1165529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104162023G>A , CM000672.2:g.104162023G>A | GRCh38 |
| NC_000010.10:g.105921781G>A , CM000672.1:g.105921781G>A | GRCh37 |
| NC_000010.9:g.105911771G>A | NCBI36 |
| NG_051581.1:g.75355C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357060.8:c.3352C>T MANE Select | ENSP00000349568.3:p.Arg1118Ter | |
| ENST00000357060.7:c.3352C>T | ENSP00000349568.3:p.Arg1118Ter | |
| ENST00000434629.5:c.1434C>T | ||
| NM_025145.5:c.3352C>T | NP_079421.5:p.Arg1118Ter | |
| XM_005270171.1:c.3355C>T | XP_005270228.1:p.Arg1119Ter | |
| XM_005270172.2:c.3355C>T | XP_005270229.1:p.Arg1119Ter | |
| XM_011540196.1:c.3469C>T | XP_011538498.1:p.Arg1157Ter | |
| XM_011540197.1:c.3469C>T | XP_011538499.1:p.Arg1157Ter | |
| XM_011540198.1:c.3352C>T | XP_011538500.1:p.Arg1118Ter | |
| XM_011540199.1:c.3352C>T | XP_011538501.1:p.Arg1118Ter | |
| XM_011540200.1:c.3469C>T | XP_011538502.1:p.Arg1157Ter | |
| XM_011540201.1:c.3469C>T | XP_011538503.1:p.Arg1157Ter | |
| XM_011540202.1:c.2698C>T | XP_011538504.1:p.Arg900Ter | |
| XM_011540203.1:c.1252C>T | XP_011538505.1:p.Arg418Ter | |
| NM_025145.6:c.3352C>T | NP_079421.5:p.Arg1118Ter | |
| XM_005270171.2:c.3355C>T | XP_005270228.1:p.Arg1119Ter | |
| XM_005270172.3:c.3355C>T | XP_005270229.1:p.Arg1119Ter | |
| XM_011540196.2:c.3469C>T | XP_011538498.1:p.Arg1157Ter | |
| XM_011540197.2:c.3469C>T | XP_011538499.1:p.Arg1157Ter | |
| XM_011540198.2:c.3352C>T | XP_011538500.1:p.Arg1118Ter | |
| XM_011540199.2:c.3352C>T | XP_011538501.1:p.Arg1118Ter | |
| XM_011540200.2:c.3469C>T | XP_011538502.1:p.Arg1157Ter | |
| XM_011540201.2:c.3469C>T | XP_011538503.1:p.Arg1157Ter | |
| XM_011540202.2:c.2698C>T | XP_011538504.1:p.Arg900Ter | |
| XM_017016681.1:c.3466C>T | XP_016872170.1:p.Arg1156Ter | |
| XM_017016682.1:c.3121C>T | XP_016872171.1:p.Arg1041Ter | |
| XM_024448177.1:c.1855C>T | XP_024303945.1:p.Arg619Ter | |
| XM_024448178.1:c.1252C>T | XP_024303946.1:p.Arg418Ter | |
| XR_002957015.1:n.3238C>T | ||
| NM_025145.7:c.3352C>T MANE Select | NP_079421.5:p.Arg1118Ter |