Linked Data
ClinVar Variation Id:
97569
dbSNP Id:
rs104895324
ExAC:
12:110034330 A / G
gnomAD v2:
12-110034330-A-G
gnomAD v3:
12-109596525-A-G
gnomAD v4:
12-109596525-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109596525A>G , CM000674.2:g.109596525A>G | GRCh38 |
| NC_000012.11:g.110034330A>G , CM000674.1:g.110034330A>G | GRCh37 |
| NC_000012.10:g.108518713A>G | NCBI36 |
| NG_007702.1:g.27831A>G , LRG_156:g.27831A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.296A>G | ENSP00000439134.1:p.His99Arg | |
| ENST00000546277.6:c.1139A>G | ENSP00000438153.2:p.His380Arg | |
| ENST00000636529.2:n.778A>G | ||
| ENST00000697195.1:c.*903A>G | ENSP00000513181.1:n.*903A>G | |
| ENST00000697196.1:c.*312A>G | ENSP00000513182.1:n.*312A>G | |
| ENST00000697197.1:n.3168A>G | ||
| ENST00000697198.1:n.1523A>G | ||
| ENST00000228510.8:c.1139A>G MANE Select | ENSP00000228510.3:p.His380Arg | |
| ENST00000636529.1:c.764A>G | ||
| ENST00000636996.1:c.987A>G | ||
| ENST00000228510.7:c.1139A>G | ENSP00000228510.3:p.His380Arg | |
| ENST00000392727.7:c.983A>G | ENSP00000376487.3:p.His328Arg | |
| ENST00000447878.6:c.*586A>G | ENSP00000415555.2:n.*586A>G | |
| ENST00000537237.5:c.*812A>G | ENSP00000445382.1:n.*812A>G | |
| ENST00000539575.4:c.1139A>G | ENSP00000443551.2:p.His380Arg | |
| ENST00000539696.5:c.296A>G | ENSP00000439134.1:p.His99Arg | |
| ENST00000540353.1:n.3372A>G | ||
| ENST00000625889.2:c.983A>G | ENSP00000486846.1:p.His328Arg | |
| ENST00000629016.2:c.*586A>G | ENSP00000486804.1:n.*586A>G | |
| NM_000431.3:c.1139A>G | NP_000422.1:p.His380Arg | |
| NM_001114185.2:c.1139A>G | NP_001107657.1:p.His380Arg | |
| NM_001301182.1:c.983A>G | NP_001288111.1:p.His328Arg | |
| XM_011538372.1:c.1139A>G | XP_011536674.1:p.His380Arg | |
| XM_017019313.2:c.983A>G | XP_016874802.1:p.His328Arg | |
| XM_017019314.1:c.1139A>G | XP_016874803.1:p.His380Arg | |
| NM_000431.4:c.1139A>G MANE Select | NP_000422.1:p.His380Arg | |
| NM_001114185.3:c.1139A>G | NP_001107657.1:p.His380Arg | |
| NM_001301182.2:c.983A>G | NP_001288111.1:p.His328Arg |