Linked Data
ClinVar Variation Id:
2036
ClinVar RCV Id:
RCV003497830
dbSNP Id:
rs121434345
ExAC:
8:61654155 A / G
gnomAD v2:
8-61654155-A-G
gnomAD v3:
8-60741596-A-G
gnomAD v4:
8-60741596-A-G
PubMed:
PMID:18834967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60741596A>G , CM000670.2:g.60741596A>G | GRCh38 |
| NC_000008.10:g.61654155A>G , CM000670.1:g.61654155A>G | GRCh37 |
| NC_000008.9:g.61816709A>G | NCBI36 |
| NG_007009.1:g.67817A>G , LRG_176:g.67817A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695848.1:n.677A>G | ||
| ENST00000695849.1:n.677A>G | ||
| ENST00000695853.1:c.164A>G | ENSP00000512218.1:p.His55Arg | |
| ENST00000700671.1:c.164A>G | ENSP00000515139.1:p.His55Arg | |
| ENST00000423902.7:c.164A>G MANE Select | ENSP00000392028.1:p.His55Arg | |
| ENST00000423902.6:c.164A>G | ENSP00000392028.1:p.His55Arg | |
| ENST00000524602.5:c.164A>G | ENSP00000437061.1:p.His55Arg | |
| ENST00000525508.1:c.164A>G | ENSP00000436027.1:p.His55Arg | |
| NM_001316690.1:c.164A>G | NP_001303619.1:p.His55Arg | |
| NM_017780.3:c.164A>G | NP_060250.2:p.His55Arg | |
| XM_011517553.1:c.164A>G | XP_011515855.1:p.His55Arg | |
| XM_011517554.1:c.164A>G | XP_011515856.1:p.His55Arg | |
| XM_011517555.1:c.164A>G | XP_011515857.1:p.His55Arg | |
| XM_011517556.1:c.164A>G | XP_011515858.1:p.His55Arg | |
| XM_011517560.1:c.164A>G | XP_011515862.1:p.His55Arg | |
| XM_011517553.2:c.164A>G | XP_011515855.1:p.His55Arg | |
| XM_011517554.3:c.164A>G | XP_011515856.1:p.His55Arg | |
| XM_011517555.2:c.164A>G | XP_011515857.1:p.His55Arg | |
| XM_011517560.2:c.164A>G | XP_011515862.1:p.His55Arg | |
| XM_017013612.1:c.164A>G | XP_016869101.1:p.His55Arg | |
| XM_017013613.1:c.164A>G | XP_016869102.1:p.His55Arg | |
| NM_017780.4:c.164A>G MANE Select | NP_060250.2:p.His55Arg |