Linked Data
ClinVar Variation Id:
2982082
ClinVar RCV Id:
RCV003842728
dbSNP Id:
rs764978010
ExAC:
1:11186750 C / T
gnomAD v2:
1-11186750-C-T
gnomAD v3:
1-11126693-C-T
gnomAD v4:
1-11126693-C-T
COSMIC:
COSM4703644
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11126693C>T , CM000663.2:g.11126693C>T | GRCh38 |
| NC_000001.10:g.11186750C>T , CM000663.1:g.11186750C>T | GRCh37 |
| NC_000001.9:g.11109337C>T | NCBI36 |
| NG_033239.1:g.140859G>A , LRG_734:g.140859G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.*1830G>A | ENSP00000515181.1:n.*1830G>A | |
| ENST00000703131.1:n.2456G>A | ||
| ENST00000703139.1:c.1092G>A | ||
| ENST00000703140.1:c.6242G>A | ENSP00000515197.1:p.Arg2081His | |
| ENST00000703141.1:c.*1972G>A | ENSP00000515198.1:n.*1972G>A | |
| ENST00000703142.1:c.*3285G>A | ENSP00000515199.1:n.*3285G>A | |
| ENST00000361445.9:c.6455G>A MANE Select | ENSP00000354558.4:p.Arg2152His | |
| ENST00000361445.8:c.6455G>A | ENSP00000354558.4:p.Arg2152His | |
| ENST00000376838.5:c.1070G>A | ENSP00000366034.1:p.Arg357His | |
| NM_004958.3:c.6455G>A , LRG_734t1:c.6455G>A | NP_004949.1:p.Arg2152His | |
| XM_005263438.1:c.6455G>A | XP_005263495.1:p.Arg2152His | |
| XR_244786.1:n.6576G>A | ||
| XM_005263438.2:c.6455G>A | XP_005263495.1:p.Arg2152His | |
| XM_017000900.1:c.5774G>A | XP_016856389.1:p.Arg1925His | |
| XM_017000901.1:c.5207G>A | XP_016856390.1:p.Arg1736His | |
| XM_024446187.1:c.6455G>A | XP_024301955.1:p.Arg2152His | |
| XR_001737087.1:n.6576G>A | ||
| NM_004958.4:c.6455G>A MANE Select | NP_004949.1:p.Arg2152His | |
| NM_001386500.1:c.6455G>A | NP_001373429.1:p.Arg2152His | |
| NM_001386501.1:c.5207G>A | NP_001373430.1:p.Arg1736His |