Linked Data
ClinVar Variation Id:
497268
dbSNP Id:
rs56120877
ExAC:
2:88857452 G / A
gnomAD v2:
2-88857452-G-A
gnomAD v3:
2-88557934-G-A
gnomAD v4:
2-88557934-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88557934G>A , CM000664.2:g.88557934G>A | GRCh38 |
| NC_000002.11:g.88857452G>A , CM000664.1:g.88857452G>A | GRCh37 |
| NC_000002.10:g.88638567G>A | NCBI36 |
| NG_016424.1:g.74643C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652666.2:n.2423C>T | ||
| ENST00000682103.1:c.648C>T | ||
| ENST00000682276.1:n.2598C>T | ||
| ENST00000682468.1:n.691C>T | ||
| ENST00000682603.1:c.220C>T | ||
| ENST00000682844.1:c.1189C>T | ||
| ENST00000682892.1:c.2700C>T | ENSP00000507214.1:p.Tyr900= | |
| ENST00000682952.1:n.2792C>T | ||
| ENST00000683663.1:n.3139C>T | ||
| ENST00000684455.1:c.2366C>T | ||
| ENST00000684642.1:c.2382C>T | ENSP00000507355.1:p.Tyr794= | |
| ENST00000684740.1:n.3331C>T | ||
| ENST00000303236.9:c.3153C>T MANE Select | ENSP00000307235.3:p.Tyr1051= | |
| ENST00000652099.1:c.3347C>T | ||
| ENST00000652666.1:n.183C>T | ||
| ENST00000652736.1:n.3029C>T | ||
| ENST00000303236.7:c.3153C>T | ENSP00000307235.3:p.Tyr1051= | |
| ENST00000415570.1:c.2790C>T | ENSP00000412076.1:p.Tyr930= | |
| ENST00000419748.5:c.2700C>T | ENSP00000408325.1:p.Tyr900= | |
| NM_001313915.1:c.2700C>T | NP_001300844.1:p.Tyr900= | |
| NM_004836.5:c.3153C>T | NP_004827.4:p.Tyr1051= | |
| NM_004836.6:c.3153C>T | NP_004827.4:p.Tyr1051= | |
| NR_110236.1:n.651-16580G>A | ||
| XM_005264649.3:c.2469C>T | XP_005264706.1:p.Tyr823= | |
| XM_017005376.2:c.2469C>T | XP_016860865.1:p.Tyr823= | |
| NM_004836.7:c.3153C>T MANE Select | NP_004827.4:p.Tyr1051= | |
| NM_001313915.2:c.2700C>T | NP_001300844.1:p.Tyr900= |