Linked Data
dbSNP Id:
rs366510
ExAC:
19:6697829 G / C
gnomAD v2:
19-6697829-G-C
gnomAD v3:
19-6697818-G-C
gnomAD v4:
19-6697818-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697818G>C , CM000681.2:g.6697818G>C | GRCh38 |
| NC_000019.9:g.6697829G>C , CM000681.1:g.6697829G>C | GRCh37 |
| NC_000019.8:g.6648829G>C | NCBI36 |
| NG_009557.1:g.27834C>G , LRG_27:g.27834C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695651.1:n.789-24C>G | ||
| ENST00000695652.1:c.2318-24C>G | ENSP00000512083.1:n.2318-24C>G | |
| ENST00000695653.1:c.350-24C>G | ENSP00000512084.1:n.350-24C>G | |
| ENST00000695654.1:c.1565-24C>G | ENSP00000512085.1:n.1565-24C>G | |
| ENST00000695655.1:c.1382-24C>G | ENSP00000512086.1:n.1382-24C>G | |
| ENST00000695692.1:n.1805-24C>G | ||
| ENST00000245907.11:c.2441-24C>G MANE Select | ENSP00000245907.4:n.2441-24C>G | |
| ENST00000245907.10:c.2441-24C>G | ENSP00000245907.4:n.2441-24C>G | |
| ENST00000602053.1:n.489-24C>G | ||
| NM_000064.3:c.2441-24C>G | NP_000055.2:n.2441-24C>G | |
| NM_000064.4:c.2441-24C>G MANE Select | NP_000055.2:n.2441-24C>G |