Linked Data
dbSNP Id:
rs777629820
ExAC:
1:17355102 A / C
gnomAD v2:
1-17355102-A-C
gnomAD v4:
1-17028607-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028607A>C , CM000663.2:g.17028607A>C | GRCh38 |
| NC_000001.10:g.17355102A>C , CM000663.1:g.17355102A>C | GRCh37 |
| NC_000001.9:g.17227689A>C | NCBI36 |
| NG_012340.1:g.30564T>G , LRG_316:g.30564T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.245T>G | ENSP00000481376.2:p.Leu82Arg | |
| ENST00000491274.6:c.374T>G | ENSP00000480482.2:p.Leu125Arg | |
| ENST00000375499.8:c.416T>G MANE Select | ENSP00000364649.3:p.Leu139Arg | |
| ENST00000375499.7:c.416T>G | ENSP00000364649.3:p.Leu139Arg | |
| ENST00000463045.2:c.245T>G | ENSP00000481376.1:p.Leu82Arg | |
| ENST00000475506.1:n.333T>G | ||
| ENST00000485515.5:n.357+47T>G | ||
| ENST00000491274.5:c.374T>G | ENSP00000480482.1:p.Leu125Arg | |
| NM_003000.2:c.416T>G , LRG_316t1:c.416T>G | NP_002991.2:p.Leu139Arg | |
| NM_003000.3:c.416T>G MANE Select | NP_002991.2:p.Leu139Arg |