Linked Data
ClinVar Variation Id:
294490
ClinVar RCV Id:
RCV000296616
RCV000327040
RCV000349294
RCV000388493
RCV001521610
RCV001579193
RCV002294225
dbSNP Id:
rs1061170
ExAC:
1:196659237 C / T
gnomAD v2:
1-196659237-C-T
gnomAD v3:
1-196690107-C-T
gnomAD v4:
1-196690107-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196690107C>T , CM000663.2:g.196690107C>T | GRCh38 |
| NC_000001.10:g.196659237C>T , CM000663.1:g.196659237C>T | GRCh37 |
| NC_000001.9:g.194925860C>T | NCBI36 |
| NG_007259.1:g.43097C>T , LRG_47:g.43097C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359637.3:c.1012C>T | ENSP00000352658.2:p.His338Tyr | |
| ENST00000470918.2:n.1470C>T | ||
| ENST00000695968.1:c.1021C>T | ENSP00000512295.1:p.His341Tyr | |
| ENST00000695969.1:c.1204C>T | ENSP00000512296.1:p.His402Tyr | |
| ENST00000695970.1:c.1204C>T | ENSP00000512297.1:p.His402Tyr | |
| ENST00000695971.1:c.1183C>T | ENSP00000512298.1:p.His395Tyr | |
| ENST00000695972.1:c.1204C>T | ENSP00000512299.1:p.His402Tyr | |
| ENST00000695973.1:c.1204C>T | ENSP00000512300.1:p.His402Tyr | |
| ENST00000695974.1:c.1204C>T | ENSP00000512301.1:p.His402Tyr | |
| ENST00000695975.1:c.1204C>T | ENSP00000512302.1:p.His402Tyr | |
| ENST00000695976.1:c.1015C>T | ENSP00000512303.1:p.His339Tyr | |
| ENST00000695977.1:n.45C>T | ||
| ENST00000695978.1:c.1204C>T | ENSP00000512304.1:p.His402Tyr | |
| ENST00000695979.1:c.1183C>T | ENSP00000512305.1:p.His395Tyr | |
| ENST00000695980.1:n.1324C>T | ||
| ENST00000695981.1:c.1204C>T | ENSP00000512306.1:p.His402Tyr | |
| ENST00000695983.1:c.1204C>T | ENSP00000512308.1:p.His402Tyr | |
| ENST00000695984.1:c.244+16944C>T | ENSP00000512309.1:n.244+16944C>T | |
| ENST00000695986.1:c.*855C>T | ENSP00000512311.1:n.*855C>T | |
| ENST00000695987.1:c.1015C>T | ENSP00000512312.1:p.His339Tyr | |
| ENST00000696018.1:n.1288C>T | ||
| ENST00000696019.1:n.1288C>T | ||
| ENST00000696020.1:n.1288C>T | ||
| ENST00000696021.1:n.1267C>T | ||
| ENST00000696022.1:n.1288C>T | ||
| ENST00000696023.1:c.1204C>T | ENSP00000512334.1:p.His402Tyr | |
| ENST00000696024.1:n.1288C>T | ||
| ENST00000696025.1:n.1288C>T | ||
| ENST00000696026.1:c.1204C>T | ENSP00000512335.1:p.His402Tyr | |
| ENST00000696027.1:c.1204C>T | ENSP00000512336.1:p.His402Tyr | |
| ENST00000696028.1:c.1204C>T | ENSP00000512337.1:p.His402Tyr | |
| ENST00000696029.1:c.1204C>T | ENSP00000512338.1:p.His402Tyr | |
| ENST00000696030.1:c.1129C>T | ENSP00000512339.1:p.His377Tyr | |
| ENST00000696031.1:c.*722C>T | ENSP00000512340.1:n.*722C>T | |
| ENST00000696032.1:c.1204C>T | ENSP00000512341.1:p.His402Tyr | |
| ENST00000696033.1:c.1159+493C>T | ENSP00000512342.1:n.1159+493C>T | |
| ENST00000367429.9:c.1204C>T MANE Select | ENSP00000356399.4:p.His402Tyr | |
| ENST00000359637.2:c.1012C>T | ENSP00000352658.2:p.His338Tyr | |
| ENST00000367429.8:c.1204C>T | ENSP00000356399.4:p.His402Tyr | |
| ENST00000466229.5:n.3220C>T | ||
| ENST00000630130.2:c.1204C>T | ENSP00000487250.1:p.His402Tyr | |
| NM_000186.3:c.1204C>T , LRG_47t1:c.1204C>T | NP_000177.2:p.His402Tyr | |
| NM_001014975.2:c.1204C>T | NP_001014975.1:p.His402Tyr | |
| XM_017001108.2:c.1204C>T | XP_016856597.1:p.His402Tyr | |
| XR_001737134.2:n.1289C>T | ||
| NM_000186.4:c.1204C>T MANE Select | NP_000177.2:p.His402Tyr | |
| NM_001014975.3:c.1204C>T | NP_001014975.1:p.His402Tyr |