Linked Data
dbSNP Id:
rs762469878
ExAC:
19:2251799 T / G
gnomAD v2:
19-2251799-T-G
gnomAD v4:
19-2251800-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251800T>G , CM000681.2:g.2251800T>G | GRCh38 |
| NC_000019.9:g.2251799T>G , CM000681.1:g.2251799T>G | GRCh37 |
| NC_000019.8:g.2202799T>G | NCBI36 |
| NG_012190.1:g.7687T>G | |
| NG_032853.1:g.9624A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1526T>G MANE Select | ENSP00000221496.2:p.Leu509Arg | |
| ENST00000221496.4:c.1526T>G | ENSP00000221496.2:p.Leu509Arg | |
| NM_000479.3:c.1526T>G | NP_000470.2:p.Leu509Arg | |
| NM_000479.4:c.1526T>G | NP_000470.2:p.Leu509Arg | |
| NM_000479.5:c.1526T>G MANE Select | NP_000470.3:p.Leu509Arg |