Linked Data
dbSNP Id:
rs1394397
gnomAD v2:
1-57656611-A-G
gnomAD v3:
1-57190938-A-G
gnomAD v4:
1-57190938-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.57190938A>G , CM000663.2:g.57190938A>G | GRCh38 |
| NC_000001.10:g.57656611A>G , CM000663.1:g.57656611A>G | GRCh37 |
| NC_000001.9:g.57429199A>G | NCBI36 |
| NG_046914.2:g.1064610T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371236.7:c.68-45509T>C MANE Select | ENSP00000360280.1:n.68-45509T>C | |
| ENST00000332102.10:c.68-45509T>C | ENSP00000329120.6:n.68-45509T>C | |
| ENST00000371230.1:c.68-45509T>C | ENSP00000360274.1:n.68-45509T>C | |
| ENST00000371231.5:c.68-45509T>C | ENSP00000360275.1:n.68-45509T>C | |
| ENST00000371232.8:c.68-45509T>C | ENSP00000360276.4:n.68-45509T>C | |
| ENST00000371236.6:c.68-45509T>C | ENSP00000360280.1:n.68-45509T>C | |
| ENST00000414851.6:c.68-45509T>C | ENSP00000387581.3:n.68-45509T>C | |
| ENST00000420954.6:c.68-45509T>C | ENSP00000395296.2:n.68-45509T>C | |
| ENST00000473821.1:n.710-45509T>C | ||
| ENST00000485760.5:n.829-45509T>C | ||
| NM_021080.3:c.68-45509T>C | NP_066566.3:n.68-45509T>C | |
| NM_001353980.1:c.68-45509T>C | NP_001340909.1:n.68-45509T>C | |
| NM_001353983.1:c.68-45509T>C | NP_001340912.1:n.68-45509T>C | |
| NM_001353985.1:c.68-45509T>C | NP_001340914.1:n.68-45509T>C | |
| NM_001353986.1:c.68-45509T>C | NP_001340915.1:n.68-45509T>C | |
| NM_001365792.1:c.68-45509T>C MANE Select | NP_001352721.1:n.68-45509T>C | |
| NM_001365793.1:c.68-45509T>C | NP_001352722.1:n.68-45509T>C | |
| NM_001365794.1:c.68-45509T>C | NP_001352723.1:n.68-45509T>C | |
| NM_001365795.1:c.68-45509T>C | NP_001352724.1:n.68-45509T>C | |
| NM_001365796.1:c.68-45509T>C | NP_001352725.1:n.68-45509T>C | |
| NM_021080.4:c.68-45509T>C | NP_066566.3:n.68-45509T>C | |
| NM_001353985.2:c.68-45509T>C | NP_001340914.1:n.68-45509T>C | |
| NM_001353986.2:c.68-45509T>C | NP_001340915.1:n.68-45509T>C | |
| NM_021080.5:c.68-45509T>C | NP_066566.3:n.68-45509T>C | |
| NM_001353980.2:c.68-45509T>C | NP_001340909.1:n.68-45509T>C | |
| NM_001353983.2:c.68-45509T>C | NP_001340912.1:n.68-45509T>C | |
| NM_001365794.2:c.68-45509T>C | NP_001352723.1:n.68-45509T>C | |
| NM_001365795.2:c.68-45509T>C | NP_001352724.1:n.68-45509T>C | |
| NM_001379461.1:c.68-45509T>C | NP_001366390.1:n.68-45509T>C | |
| NM_001379462.1:c.68-45509T>C | NP_001366391.1:n.68-45509T>C |