Linked Data
ClinVar Variation Id:
289336
ClinVar RCV Id:
RCV000270018
RCV000292141
RCV000327390
RCV000363925
RCV000384228
RCV001642894
RCV002294218
RCV003454823
dbSNP Id:
rs35343172
ExAC:
1:196712624 T / C
gnomAD v2:
1-196712624-T-C
gnomAD v3:
1-196743494-T-C
gnomAD v4:
1-196743494-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743494T>C , CM000663.2:g.196743494T>C | GRCh38 |
| NC_000001.10:g.196712624T>C , CM000663.1:g.196712624T>C | GRCh37 |
| NC_000001.9:g.194979247T>C | NCBI36 |
| NG_007259.1:g.96484T>C , LRG_47:g.96484T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4204T>C | ||
| ENST00000695970.1:c.3002T>C | ENSP00000512297.1:p.Ile1001Thr | |
| ENST00000695971.1:c.3155T>C | ENSP00000512298.1:p.Ile1052Thr | |
| ENST00000695972.1:c.*253T>C | ENSP00000512299.1:n.*253T>C | |
| ENST00000695973.1:c.*1540T>C | ENSP00000512300.1:n.*1540T>C | |
| ENST00000695974.1:c.2999T>C | ENSP00000512301.1:p.Ile1000Thr | |
| ENST00000695975.1:c.*1303T>C | ENSP00000512302.1:n.*1303T>C | |
| ENST00000695976.1:c.2987T>C | ENSP00000512303.1:p.Ile996Thr | |
| ENST00000695981.1:c.3176T>C | ENSP00000512306.1:p.Ile1059Thr | |
| ENST00000695984.1:c.1184T>C | ENSP00000512309.1:p.Ile395Thr | |
| ENST00000695986.1:c.*2827T>C | ENSP00000512311.1:n.*2827T>C | |
| ENST00000696026.1:c.*1458T>C | ENSP00000512335.1:n.*1458T>C | |
| ENST00000696027.1:c.3170T>C | ENSP00000512336.1:p.Ile1057Thr | |
| ENST00000696028.1:c.3104T>C | ENSP00000512337.1:p.Ile1035Thr | |
| ENST00000696029.1:c.3170T>C | ENSP00000512338.1:p.Ile1057Thr | |
| ENST00000696031.1:c.*2694T>C | ENSP00000512340.1:n.*2694T>C | |
| ENST00000696032.1:c.3176T>C | ENSP00000512341.1:p.Ile1059Thr | |
| ENST00000696033.1:c.1160-36303T>C | ENSP00000512342.1:n.1160-36303T>C | |
| ENST00000367429.9:c.3176T>C MANE Select | ENSP00000356399.4:p.Ile1059Thr | |
| ENST00000367429.8:c.3176T>C | ENSP00000356399.4:p.Ile1059Thr | |
| ENST00000466229.5:n.6274T>C | ||
| NM_000186.3:c.3176T>C , LRG_47t1:c.3176T>C | NP_000177.2:p.Ile1059Thr | |
| XR_001737134.2:n.3362T>C | ||
| NM_000186.4:c.3176T>C MANE Select | NP_000177.2:p.Ile1059Thr |