Linked Data
dbSNP Id:
rs912209178
gnomAD v2:
19-10266882-A-G
gnomAD v3:
19-10156206-A-G
gnomAD v4:
19-10156206-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10156206A>G , CM000681.2:g.10156206A>G | GRCh38 |
| NC_000019.9:g.10266882A>G , CM000681.1:g.10266882A>G | GRCh37 |
| NC_000019.8:g.10127882A>G | NCBI36 |
| NG_028016.3:g.80081T>C , LRG_362:g.80081T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.1399+185T>C MANE Select | ENSP00000352516.3:n.1399+185T>C | |
| ENST00000676604.1:n.1011+185T>C | ||
| ENST00000676610.1:c.1351+185T>C | ENSP00000504236.1:n.1351+185T>C | |
| ENST00000676820.1:n.1407+185T>C | ||
| ENST00000676868.1:n.2035+185T>C | ||
| ENST00000677013.1:c.*1041+185T>C | ENSP00000503135.1:n.*1041+185T>C | |
| ENST00000677250.1:c.*471+185T>C | ENSP00000502894.1:n.*471+185T>C | |
| ENST00000677616.1:c.1042+185T>C | ENSP00000503055.1:n.1042+185T>C | |
| ENST00000677634.1:c.1351+185T>C | ENSP00000504246.1:n.1351+185T>C | |
| ENST00000677685.1:c.*576+185T>C | ENSP00000503407.1:n.*576+185T>C | |
| ENST00000677783.1:n.1821+185T>C | ||
| ENST00000677946.1:c.1351+185T>C | ENSP00000504202.1:n.1351+185T>C | |
| ENST00000678024.1:n.1494+185T>C | ||
| ENST00000678694.1:n.672+185T>C | ||
| ENST00000678804.1:c.1351+185T>C | ENSP00000503853.1:n.1351+185T>C | |
| ENST00000679103.1:c.1351+185T>C | ENSP00000503151.1:n.1351+185T>C | |
| ENST00000679313.1:c.1351+185T>C | ENSP00000504512.1:n.1351+185T>C | |
| ENST00000340748.8:c.1351+185T>C | ENSP00000345739.3:n.1351+185T>C | |
| ENST00000359526.8:c.1399+185T>C | ENSP00000352516.3:n.1399+185T>C | |
| ENST00000540357.5:c.343+185T>C | ENSP00000440457.2:n.343+185T>C | |
| ENST00000585843.1:n.556+185T>C | ||
| ENST00000592705.5:c.*1089+185T>C | ENSP00000466657.1:n.*1089+185T>C | |
| NM_001130823.1:c.1399+185T>C , LRG_362t1:c.1399+185T>C | NP_001124295.1:n.1399+185T>C | |
| NM_001379.2:c.1351+185T>C | NP_001370.1:n.1351+185T>C | |
| XM_011527772.1:c.1399+185T>C | XP_011526074.1:n.1399+185T>C | |
| XM_011527773.1:c.1351+185T>C | XP_011526075.1:n.1351+185T>C | |
| XM_011527774.1:c.988+185T>C | XP_011526076.1:n.988+185T>C | |
| NM_001130823.2:c.1399+185T>C | NP_001124295.1:n.1399+185T>C | |
| NM_001318730.1:c.1351+185T>C | NP_001305659.1:n.1351+185T>C | |
| NM_001318731.1:c.1036+185T>C | NP_001305660.1:n.1036+185T>C | |
| NM_001379.3:c.1351+185T>C | NP_001370.1:n.1351+185T>C | |
| NM_001130823.3:c.1399+185T>C MANE Select | NP_001124295.1:n.1399+185T>C | |
| NM_001318730.2:c.1351+185T>C | NP_001305659.1:n.1351+185T>C | |
| NM_001318731.2:c.1036+185T>C | NP_001305660.1:n.1036+185T>C | |
| NM_001379.4:c.1351+185T>C | NP_001370.1:n.1351+185T>C |