Linked Data
ClinVar Variation Id:
94929
dbSNP Id:
rs80272723
ExAC:
2:238280476 C / T
gnomAD v2:
2-238280476-C-T
gnomAD v3:
2-237371833-C-T
gnomAD v4:
2-237371833-C-T
PubMed:
PMID:15689448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237371833C>T , CM000664.2:g.237371833C>T | GRCh38 |
| NC_000002.11:g.238280476C>T , CM000664.1:g.238280476C>T | GRCh37 |
| NC_000002.10:g.237945215C>T | NCBI36 |
| NG_008676.1:g.47375G>A , LRG_473:g.47375G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.3566G>A | ENSP00000315873.4:p.Arg1189Gln | |
| ENST00000684597.1:c.15G>A | ||
| ENST00000295550.9:c.4184G>A MANE Select | ENSP00000295550.4:p.Arg1395Gln | |
| ENST00000295550.8:c.4184G>A | ENSP00000295550.4:p.Arg1395Gln | |
| ENST00000347401.7:c.2363G>A | ENSP00000315609.4:p.Arg788Gln | |
| ENST00000353578.8:c.3566G>A | ENSP00000315873.4:p.Arg1189Gln | |
| ENST00000392003.6:c.2963G>A | ENSP00000375860.2:p.Arg988Gln | |
| ENST00000392004.7:c.3566G>A | ENSP00000375861.3:p.Arg1189Gln | |
| ENST00000409809.5:c.3566G>A | ENSP00000386844.1:p.Arg1189Gln | |
| ENST00000472056.5:c.2363G>A | ENSP00000418285.1:p.Arg788Gln | |
| NM_004369.3:c.4184G>A , LRG_473t1:c.4184G>A | NP_004360.2:p.Arg1395Gln | |
| NM_057164.4:c.2963G>A | NP_476505.3:p.Arg988Gln | |
| NM_057165.4:c.3566G>A | NP_476506.3:p.Arg1189Gln | |
| NM_057166.4:c.2363G>A | NP_476507.3:p.Arg788Gln | |
| NM_057167.3:c.3566G>A | NP_476508.2:p.Arg1189Gln | |
| XM_005246065.1:c.3584G>A | XP_005246122.1:p.Arg1195Gln | |
| XM_005246066.1:c.2963G>A | XP_005246123.1:p.Arg988Gln | |
| XM_006712253.1:c.4184G>A | XP_006712316.1:p.Arg1395Gln | |
| XM_011510574.1:c.4184G>A | XP_011508876.1:p.Arg1395Gln | |
| XM_011510575.1:c.1778G>A | XP_011508877.1:p.Arg593Gln | |
| XM_017003304.1:c.1778G>A | XP_016858793.1:p.Arg593Gln | |
| XM_024452684.1:c.2963G>A | XP_024308452.1:p.Arg988Gln | |
| NM_004369.4:c.4184G>A MANE Select | NP_004360.2:p.Arg1395Gln | |
| NM_057164.5:c.2963G>A | NP_476505.3:p.Arg988Gln | |
| NM_057165.5:c.3566G>A | NP_476506.3:p.Arg1189Gln | |
| NM_057166.5:c.2363G>A | NP_476507.3:p.Arg788Gln | |
| NM_057167.4:c.3566G>A | NP_476508.2:p.Arg1189Gln |