Linked Data
ClinVar Variation Id:
294520
ClinVar RCV Id:
RCV000298640
RCV000302390
RCV000355977
RCV000403627
RCV001849180
RCV002294240
RCV003454853
RCV001701992
RCV001723878
dbSNP Id:
rs35274867
ExAC:
1:196712596 A / T
gnomAD v2:
1-196712596-A-T
gnomAD v3:
1-196743466-A-T
gnomAD v4:
1-196743466-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743466A>T , CM000663.2:g.196743466A>T | GRCh38 |
| NC_000001.10:g.196712596A>T , CM000663.1:g.196712596A>T | GRCh37 |
| NC_000001.9:g.194979219A>T | NCBI36 |
| NG_007259.1:g.96456A>T , LRG_47:g.96456A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4176A>T | ||
| ENST00000695970.1:c.2974A>T | ENSP00000512297.1:p.Asn992Tyr | |
| ENST00000695971.1:c.3127A>T | ENSP00000512298.1:p.Asn1043Tyr | |
| ENST00000695972.1:c.*225A>T | ENSP00000512299.1:n.*225A>T | |
| ENST00000695973.1:c.*1512A>T | ENSP00000512300.1:n.*1512A>T | |
| ENST00000695974.1:c.2971A>T | ENSP00000512301.1:p.Asn991Tyr | |
| ENST00000695975.1:c.*1275A>T | ENSP00000512302.1:n.*1275A>T | |
| ENST00000695976.1:c.2959A>T | ENSP00000512303.1:p.Asn987Tyr | |
| ENST00000695981.1:c.3148A>T | ENSP00000512306.1:p.Asn1050Tyr | |
| ENST00000695984.1:c.1156A>T | ENSP00000512309.1:p.Asn386Tyr | |
| ENST00000695986.1:c.*2799A>T | ENSP00000512311.1:n.*2799A>T | |
| ENST00000696026.1:c.*1430A>T | ENSP00000512335.1:n.*1430A>T | |
| ENST00000696027.1:c.3142A>T | ENSP00000512336.1:p.Asn1048Tyr | |
| ENST00000696028.1:c.3076A>T | ENSP00000512337.1:p.Asn1026Tyr | |
| ENST00000696029.1:c.3142A>T | ENSP00000512338.1:p.Asn1048Tyr | |
| ENST00000696031.1:c.*2666A>T | ENSP00000512340.1:n.*2666A>T | |
| ENST00000696032.1:c.3148A>T | ENSP00000512341.1:p.Asn1050Tyr | |
| ENST00000696033.1:c.1160-36331A>T | ENSP00000512342.1:n.1160-36331A>T | |
| ENST00000367429.9:c.3148A>T MANE Select | ENSP00000356399.4:p.Asn1050Tyr | |
| ENST00000367429.8:c.3148A>T | ENSP00000356399.4:p.Asn1050Tyr | |
| ENST00000466229.5:n.6246A>T | ||
| NM_000186.3:c.3148A>T , LRG_47t1:c.3148A>T | NP_000177.2:p.Asn1050Tyr | |
| XR_001737134.2:n.3334A>T | ||
| NM_000186.4:c.3148A>T MANE Select | NP_000177.2:p.Asn1050Tyr |