Linked Data
ClinVar Variation Id:
283753
dbSNP Id:
rs201888442
ExAC:
2:238243520 C / T
gnomAD v2:
2-238243520-C-T
gnomAD v3:
2-237334877-C-T
gnomAD v4:
2-237334877-C-T
COSMIC:
COSM301976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237334877C>T , CM000664.2:g.237334877C>T | GRCh38 |
| NC_000002.11:g.238243520C>T , CM000664.1:g.238243520C>T | GRCh37 |
| NC_000002.10:g.237908259C>T | NCBI36 |
| NG_008676.1:g.84331G>A , LRG_473:g.84331G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1610+1258G>A | ||
| ENST00000353578.9:c.8360G>A | ENSP00000315873.4:p.Arg2787His | |
| ENST00000682957.1:c.1105G>A | ||
| ENST00000295550.9:c.8978G>A MANE Select | ENSP00000295550.4:p.Arg2993His | |
| ENST00000295550.8:c.8978G>A | ENSP00000295550.4:p.Arg2993His | |
| ENST00000347401.7:c.7154G>A | ENSP00000315609.4:p.Arg2385His | |
| ENST00000353578.8:c.8360G>A | ENSP00000315873.4:p.Arg2787His | |
| ENST00000409809.5:c.8360G>A | ENSP00000386844.1:p.Arg2787His | |
| ENST00000472056.5:c.7157G>A | ENSP00000418285.1:p.Arg2386His | |
| ENST00000491769.1:n.5420G>A | ||
| NM_004369.3:c.8978G>A , LRG_473t1:c.8978G>A | NP_004360.2:p.Arg2993His | |
| NM_057166.4:c.7157G>A | NP_476507.3:p.Arg2386His | |
| NM_057167.3:c.8360G>A | NP_476508.2:p.Arg2787His | |
| XM_005246065.1:c.8378G>A | XP_005246122.1:p.Arg2793His | |
| XM_005246066.1:c.7757G>A | XP_005246123.1:p.Arg2586His | |
| XM_006712253.1:c.8477G>A | XP_006712316.1:p.Arg2826His | |
| XM_011510574.1:c.8975G>A | XP_011508876.1:p.Arg2992His | |
| XM_011510575.1:c.6572G>A | XP_011508877.1:p.Arg2191His | |
| XM_017003304.1:c.6572G>A | XP_016858793.1:p.Arg2191His | |
| XM_024452684.1:c.7757G>A | XP_024308452.1:p.Arg2586His | |
| NM_004369.4:c.8978G>A MANE Select | NP_004360.2:p.Arg2993His | |
| NM_057166.5:c.7157G>A | NP_476507.3:p.Arg2386His | |
| NM_057167.4:c.8360G>A | NP_476508.2:p.Arg2787His |