Linked Data
dbSNP Id:
rs748448476
ExAC:
1:161514480 A / C
gnomAD v2:
1-161514480-A-C
gnomAD v4:
1-161544690-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161544690A>C , CM000663.2:g.161544690A>C | GRCh38 |
| NC_000001.10:g.161514480A>C , CM000663.1:g.161514480A>C | GRCh37 |
| NC_000001.9:g.159781104A>C | NCBI36 |
| NG_009066.1:g.10934T>G , LRG_60:g.10934T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367967.8:c.577+11T>G | ENSP00000356944.3:n.577+11T>G | |
| ENST00000426740.8:c.574+11T>G | ENSP00000410180.3:n.574+11T>G | |
| ENST00000436743.7:c.577+11T>G | ENSP00000416607.1:n.577+11T>G | |
| ENST00000699395.1:c.577+11T>G | ENSP00000514356.1:n.577+11T>G | |
| ENST00000699396.1:c.577+11T>G | ENSP00000514357.1:n.577+11T>G | |
| ENST00000699397.1:c.577+11T>G | ENSP00000514358.1:n.577+11T>G | |
| ENST00000699398.1:c.588T>G | ENSP00000514359.1:p.Cys196Trp | |
| ENST00000699399.1:c.526+11T>G | ENSP00000514360.1:n.526+11T>G | |
| ENST00000699400.1:c.574+11T>G | ENSP00000514361.1:n.574+11T>G | |
| ENST00000699401.1:c.588T>G | ENSP00000514362.1:p.Cys196Trp | |
| ENST00000426740.7:c.574+11T>G | ENSP00000410180.3:n.574+11T>G | |
| ENST00000436743.6:c.577+11T>G | ENSP00000416607.1:n.577+11T>G | |
| ENST00000443193.6:c.577+11T>G MANE Select | ENSP00000392047.2:n.577+11T>G | |
| ENST00000367967.7:c.577+11T>G | ENSP00000356944.3:n.577+11T>G | |
| ENST00000367969.7:c.685+11T>G | ENSP00000356946.3:n.685+11T>G | |
| ENST00000426740.5:c.627+11T>G | ||
| ENST00000436743.5:c.577+11T>G | ENSP00000416607.1:n.577+11T>G | |
| ENST00000443193.5:c.577+11T>G | ENSP00000392047.2:n.577+11T>G | |
| NM_000569.6:c.685+11T>G | NP_000560.5:n.685+11T>G | |
| NM_001127592.1:c.682+11T>G | NP_001121064.1:n.682+11T>G | |
| NM_001127593.1:c.577+11T>G , LRG_60t1:c.577+11T>G | NP_001121065.1:n.577+11T>G | |
| NM_001127595.1:c.577+11T>G | NP_001121067.1:n.577+11T>G | |
| NM_001127596.1:c.574+11T>G | NP_001121068.1:n.574+11T>G | |
| XM_011509293.1:c.428-1491T>G | XP_011507595.1:n.428-1491T>G | |
| NM_000569.7:c.892+11T>G | NP_000560.6:n.892+11T>G | |
| NM_001127592.2:c.889+11T>G | NP_001121064.2:n.889+11T>G | |
| NM_001329120.1:c.577+11T>G | NP_001316049.1:n.577+11T>G | |
| NM_001329122.1:c.635-1491T>G | NP_001316051.1:n.635-1491T>G | |
| XM_024454064.1:c.574+11T>G | XP_024309832.1:n.574+11T>G | |
| NM_001127595.2:c.577+11T>G | NP_001121067.1:n.577+11T>G | |
| NM_001127596.2:c.574+11T>G | NP_001121068.1:n.574+11T>G | |
| NM_000569.8:c.577+11T>G MANE Select | NP_000560.7:n.577+11T>G | |
| NM_001329120.2:c.577+11T>G | NP_001316049.1:n.577+11T>G | |
| NM_001386450.1:c.574+11T>G | NP_001373379.1:n.574+11T>G |