Linked Data
dbSNP Id:
rs12144939
gnomAD v2:
1-196698945-G-T
gnomAD v3:
1-196729815-G-T
gnomAD v4:
1-196729815-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196729815G>T , CM000663.2:g.196729815G>T | GRCh38 |
| NC_000001.10:g.196698945G>T , CM000663.1:g.196698945G>T | GRCh37 |
| NC_000001.9:g.194965568G>T | NCBI36 |
| NG_007259.1:g.82805G>T , LRG_47:g.82805G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.2679+1293G>T | ||
| ENST00000695969.1:c.2413+1293G>T | ENSP00000512296.1:n.2413+1293G>T | |
| ENST00000695970.1:c.2413+1293G>T | ENSP00000512297.1:n.2413+1293G>T | |
| ENST00000695971.1:c.2392+1293G>T | ENSP00000512298.1:n.2392+1293G>T | |
| ENST00000695972.1:c.2232+2879G>T | ENSP00000512299.1:n.2232+2879G>T | |
| ENST00000695973.1:c.*777+1293G>T | ENSP00000512300.1:n.*777+1293G>T | |
| ENST00000695974.1:c.2236+1293G>T | ENSP00000512301.1:n.2236+1293G>T | |
| ENST00000695975.1:c.*540+1293G>T | ENSP00000512302.1:n.*540+1293G>T | |
| ENST00000695976.1:c.2224+1293G>T | ENSP00000512303.1:n.2224+1293G>T | |
| ENST00000695981.1:c.2413+1293G>T | ENSP00000512306.1:n.2413+1293G>T | |
| ENST00000695983.1:c.2413+1293G>T | ENSP00000512308.1:n.2413+1293G>T | |
| ENST00000695984.1:c.421+1293G>T | ENSP00000512309.1:n.421+1293G>T | |
| ENST00000695986.1:c.*2064+1293G>T | ENSP00000512311.1:n.*2064+1293G>T | |
| ENST00000696025.1:n.2497+1293G>T | ||
| ENST00000696026.1:c.*695+1293G>T | ENSP00000512335.1:n.*695+1293G>T | |
| ENST00000696027.1:c.2407+1293G>T | ENSP00000512336.1:n.2407+1293G>T | |
| ENST00000696028.1:c.2413+1293G>T | ENSP00000512337.1:n.2413+1293G>T | |
| ENST00000696029.1:c.2413+1293G>T | ENSP00000512338.1:n.2413+1293G>T | |
| ENST00000696031.1:c.*1931+1293G>T | ENSP00000512340.1:n.*1931+1293G>T | |
| ENST00000696032.1:c.2413+1293G>T | ENSP00000512341.1:n.2413+1293G>T | |
| ENST00000696033.1:c.1159+40201G>T | ENSP00000512342.1:n.1159+40201G>T | |
| ENST00000367429.9:c.2413+1293G>T MANE Select | ENSP00000356399.4:n.2413+1293G>T | |
| ENST00000367429.8:c.2413+1293G>T | ENSP00000356399.4:n.2413+1293G>T | |
| ENST00000466229.5:n.4429+1293G>T | ||
| NM_000186.3:c.2413+1293G>T , LRG_47t1:c.2413+1293G>T | NP_000177.2:n.2413+1293G>T | |
| XR_001737134.2:n.2599+1293G>T | ||
| NM_000186.4:c.2413+1293G>T MANE Select | NP_000177.2:n.2413+1293G>T |