Linked Data
dbSNP Id:
rs201309372
ExAC:
19:6713430 G / C
gnomAD v2:
19-6713430-G-C
gnomAD v4:
19-6713419-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713419G>C , CM000681.2:g.6713419G>C | GRCh38 |
| NC_000019.9:g.6713430G>C , CM000681.1:g.6713430G>C | GRCh37 |
| NC_000019.8:g.6664430G>C | NCBI36 |
| NG_009557.1:g.12233C>G , LRG_27:g.12233C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.741C>G | ENSP00000512083.1:p.Leu247= | |
| ENST00000695692.1:n.188C>G | ||
| ENST00000245907.11:c.864C>G MANE Select | ENSP00000245907.4:p.Leu288= | |
| ENST00000245907.10:c.864C>G | ENSP00000245907.4:p.Leu288= | |
| ENST00000595577.1:n.368C>G | ||
| ENST00000597442.5:n.114C>G | ||
| NM_000064.3:c.864C>G | NP_000055.2:p.Leu288= | |
| NM_000064.4:c.864C>G MANE Select | NP_000055.2:p.Leu288= |