Linked Data
dbSNP Id:
rs1490332839
gnomAD v2:
19-6697842-C-T
gnomAD v3:
19-6697831-C-T
gnomAD v4:
19-6697831-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697831C>T , CM000681.2:g.6697831C>T | GRCh38 |
| NC_000019.9:g.6697842C>T , CM000681.1:g.6697842C>T | GRCh37 |
| NC_000019.8:g.6648842C>T | NCBI36 |
| NG_009557.1:g.27821G>A , LRG_27:g.27821G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.789-37G>A | ||
| ENST00000695652.1:c.2318-37G>A | ENSP00000512083.1:n.2318-37G>A | |
| ENST00000695653.1:c.350-37G>A | ENSP00000512084.1:n.350-37G>A | |
| ENST00000695654.1:c.1565-37G>A | ENSP00000512085.1:n.1565-37G>A | |
| ENST00000695655.1:c.1382-37G>A | ENSP00000512086.1:n.1382-37G>A | |
| ENST00000695692.1:n.1805-37G>A | ||
| ENST00000245907.11:c.2441-37G>A MANE Select | ENSP00000245907.4:n.2441-37G>A | |
| ENST00000245907.10:c.2441-37G>A | ENSP00000245907.4:n.2441-37G>A | |
| ENST00000602053.1:n.489-37G>A | ||
| NM_000064.3:c.2441-37G>A | NP_000055.2:n.2441-37G>A | |
| NM_000064.4:c.2441-37G>A MANE Select | NP_000055.2:n.2441-37G>A |