Linked Data
dbSNP Id:
rs747004756
ExAC:
1:196712686 C / T
gnomAD v3:
1-196743556-C-T
gnomAD v4:
1-196743556-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743556C>T , CM000663.2:g.196743556C>T | GRCh38 |
| NC_000001.10:g.196712686C>T , CM000663.1:g.196712686C>T | GRCh37 |
| NC_000001.9:g.194979309C>T | NCBI36 |
| NG_007259.1:g.96546C>T , LRG_47:g.96546C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4266C>T | ||
| ENST00000695970.1:c.3064C>T | ENSP00000512297.1:p.Pro1022Ser | |
| ENST00000695971.1:c.3217C>T | ENSP00000512298.1:p.Pro1073Ser | |
| ENST00000695972.1:c.*315C>T | ENSP00000512299.1:n.*315C>T | |
| ENST00000695973.1:c.*1602C>T | ENSP00000512300.1:n.*1602C>T | |
| ENST00000695974.1:c.3061C>T | ENSP00000512301.1:p.Pro1021Ser | |
| ENST00000695975.1:c.*1365C>T | ENSP00000512302.1:n.*1365C>T | |
| ENST00000695976.1:c.3049C>T | ENSP00000512303.1:p.Pro1017Ser | |
| ENST00000695981.1:c.3238C>T | ENSP00000512306.1:p.Pro1080Ser | |
| ENST00000695984.1:c.1246C>T | ENSP00000512309.1:p.Pro416Ser | |
| ENST00000695986.1:c.*2889C>T | ENSP00000512311.1:n.*2889C>T | |
| ENST00000696026.1:c.*1520C>T | ENSP00000512335.1:n.*1520C>T | |
| ENST00000696027.1:c.3232C>T | ENSP00000512336.1:p.Pro1078Ser | |
| ENST00000696028.1:c.3166C>T | ENSP00000512337.1:p.Pro1056Ser | |
| ENST00000696029.1:c.3232C>T | ENSP00000512338.1:p.Pro1078Ser | |
| ENST00000696031.1:c.*2756C>T | ENSP00000512340.1:n.*2756C>T | |
| ENST00000696032.1:c.3238C>T | ENSP00000512341.1:p.Pro1080Ser | |
| ENST00000696033.1:c.1160-36241C>T | ENSP00000512342.1:n.1160-36241C>T | |
| ENST00000367429.9:c.3238C>T MANE Select | ENSP00000356399.4:p.Pro1080Ser | |
| ENST00000367429.8:c.3238C>T | ENSP00000356399.4:p.Pro1080Ser | |
| ENST00000466229.5:n.6336C>T | ||
| NM_000186.3:c.3238C>T , LRG_47t1:c.3238C>T | NP_000177.2:p.Pro1080Ser | |
| XR_001737134.2:n.3424C>T | ||
| NM_000186.4:c.3238C>T MANE Select | NP_000177.2:p.Pro1080Ser |