Linked Data
dbSNP Id:
rs750900329
ExAC:
19:56320566 C / G
gnomAD v2:
19-56320566-C-G
gnomAD v4:
19-55809200-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55809200C>G , CM000681.2:g.55809200C>G | GRCh38 |
| NC_000019.9:g.56320566C>G , CM000681.1:g.56320566C>G | GRCh37 |
| NC_000019.8:g.61012378C>G | NCBI36 |
| NG_054722.1:g.32563G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589093.6:c.1410G>C MANE Select | ENSP00000466285.1:p.Leu470= | |
| ENST00000589093.5:c.1410G>C | ENSP00000466285.1:p.Leu470= | |
| ENST00000589824.6:c.1410G>C | ENSP00000468082.1:p.Leu470= | |
| ENST00000590409.5:c.1113G>C | ENSP00000466582.1:p.Leu371= | |
| ENST00000592953.5:c.1113G>C | ENSP00000468196.1:p.Leu371= | |
| ENST00000593244.5:c.1410G>C | ENSP00000467988.1:p.Leu470= | |
| NM_001297743.1:c.1113G>C | NP_001284672.1:p.Leu371= | |
| NM_145007.3:c.1410G>C | NP_659444.2:p.Leu470= | |
| NM_001297743.3:c.1113G>C | NP_001284672.1:p.Leu371= | |
| NM_001385451.2:c.1410G>C | NP_001372380.1:p.Leu470= | |
| NM_001385453.2:c.1410G>C | NP_001372382.1:p.Leu470= | |
| NM_145007.5:c.1410G>C | NP_659444.2:p.Leu470= | |
| NR_169620.2:n.1601G>C | ||
| NR_169621.2:n.1934G>C | ||
| NR_169622.2:n.796-7461G>C | ||
| NM_001394894.2:c.1410G>C MANE Select | NP_001381823.1:p.Leu470= |