Linked Data
dbSNP Id:
rs751425302
ExAC:
11:118014628 T / C
gnomAD v2:
11-118014628-T-C
gnomAD v4:
11-118143913-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118143913T>C , CM000673.2:g.118143913T>C | GRCh38 |
| NC_000011.9:g.118014628T>C , CM000673.1:g.118014628T>C | GRCh37 |
| NC_000011.8:g.117519838T>C | NCBI36 |
| NG_011710.1:g.14003A>G , LRG_330:g.14003A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.383A>G MANE Select | ENSP00000322460.4:p.Lys128Arg | |
| ENST00000324727.8:c.383A>G | ENSP00000322460.4:p.Lys128Arg | |
| ENST00000415030.6:n.526A>G | ||
| ENST00000529878.1:c.62-2577A>G | ENSP00000436343.1:n.62-2577A>G | |
| ENST00000532138.1:n.719+74A>G | ||
| NM_001142348.1:c.62-2577A>G | NP_001135820.1:n.62-2577A>G | |
| NM_001142349.1:c.53A>G | NP_001135821.1:p.Lys18Arg | |
| NM_174934.3:c.383A>G , LRG_330t1:c.383A>G | NP_777594.1:p.Lys128Arg | |
| NR_024527.1:n.488+74A>G | ||
| NM_001142348.2:c.62-2577A>G | NP_001135820.1:n.62-2577A>G | |
| NM_001142349.2:c.53A>G | NP_001135821.1:p.Lys18Arg | |
| NR_024527.2:n.452+74A>G | ||
| NM_174934.4:c.383A>G MANE Select | NP_777594.1:p.Lys128Arg |