Linked Data
ClinVar Variation Id:
389937
dbSNP Id:
rs1057523592
gnomAD v2:
12-121175259-T-G
gnomAD v4:
12-120737456-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737456T>G , CM000674.2:g.120737456T>G | GRCh38 |
| NC_000012.11:g.121175259T>G , CM000674.1:g.121175259T>G | GRCh37 |
| NC_000012.10:g.119659642T>G | NCBI36 |
| NG_007991.1:g.16689T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.461T>G MANE Select | ENSP00000242592.4:p.Leu154Arg | |
| ENST00000242592.8:c.461T>G | ENSP00000242592.4:p.Leu154Arg | |
| ENST00000411593.2:c.461T>G | ENSP00000401045.2:p.Leu154Arg | |
| ENST00000539690.1:n.793T>G | ||
| NM_000017.3:c.461T>G | NP_000008.1:p.Leu154Arg | |
| NM_001302554.1:c.461T>G | NP_001289483.1:p.Leu154Arg | |
| NM_000017.4:c.461T>G MANE Select | NP_000008.1:p.Leu154Arg | |
| NM_001302554.2:c.461T>G | NP_001289483.1:p.Leu154Arg |