Linked Data
ClinVar Variation Id:
988144
ClinVar RCV Id:
RCV001328127
dbSNP Id:
rs1653040605
gnomAD v4:
1-196747149-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747149A>T , CM000663.2:g.196747149A>T | GRCh38 |
| NC_000001.10:g.196716279A>T , CM000663.1:g.196716279A>T | GRCh37 |
| NC_000001.9:g.194982902A>T | NCBI36 |
| NG_007259.1:g.100139A>T , LRG_47:g.100139A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4560A>T | ||
| ENST00000695970.1:c.3358A>T | ENSP00000512297.1:p.Asn1120Tyr | |
| ENST00000695971.1:c.3511A>T | ENSP00000512298.1:p.Asn1171Tyr | |
| ENST00000695972.1:c.*609A>T | ENSP00000512299.1:n.*609A>T | |
| ENST00000695973.1:c.*1896A>T | ENSP00000512300.1:n.*1896A>T | |
| ENST00000695974.1:c.3355A>T | ENSP00000512301.1:p.Asn1119Tyr | |
| ENST00000695975.1:c.*1659A>T | ENSP00000512302.1:n.*1659A>T | |
| ENST00000695976.1:c.3343A>T | ENSP00000512303.1:p.Asn1115Tyr | |
| ENST00000695981.1:c.3532A>T | ENSP00000512306.1:p.Asn1178Tyr | |
| ENST00000695984.1:c.1540A>T | ENSP00000512309.1:p.Asn514Tyr | |
| ENST00000695986.1:c.*3183A>T | ENSP00000512311.1:n.*3183A>T | |
| ENST00000695990.1:n.566A>T | ||
| ENST00000696026.1:c.*1814A>T | ENSP00000512335.1:n.*1814A>T | |
| ENST00000696027.1:c.3526A>T | ENSP00000512336.1:p.Asn1176Tyr | |
| ENST00000696028.1:c.3460A>T | ENSP00000512337.1:p.Asn1154Tyr | |
| ENST00000696029.1:c.3526A>T | ENSP00000512338.1:p.Asn1176Tyr | |
| ENST00000696031.1:c.*3050A>T | ENSP00000512340.1:n.*3050A>T | |
| ENST00000696032.1:c.3532A>T | ENSP00000512341.1:p.Asn1178Tyr | |
| ENST00000696033.1:c.1160-32648A>T | ENSP00000512342.1:n.1160-32648A>T | |
| ENST00000367429.9:c.3532A>T MANE Select | ENSP00000356399.4:p.Asn1178Tyr | |
| ENST00000367429.8:c.3532A>T | ENSP00000356399.4:p.Asn1178Tyr | |
| ENST00000466229.5:n.6630A>T | ||
| NM_000186.3:c.3532A>T , LRG_47t1:c.3532A>T | NP_000177.2:p.Asn1178Tyr | |
| XR_001737134.2:n.3718A>T | ||
| NM_000186.4:c.3532A>T MANE Select | NP_000177.2:p.Asn1178Tyr |