Linked Data
dbSNP Id:
rs1392229814
gnomAD v2:
2-39939531-C-T
gnomAD v3:
2-39712391-C-T
gnomAD v4:
2-39712391-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39712391C>T , CM000664.2:g.39712391C>T | GRCh38 |
| NC_000002.11:g.39939531C>T , CM000664.1:g.39939531C>T | GRCh37 |
| NC_000002.10:g.39793035C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281961.3:c.653-4619C>T MANE Select | ENSP00000281961.2:n.653-4619C>T | |
| ENST00000281961.2:c.653-4619C>T | ENSP00000281961.2:n.653-4619C>T | |
| ENST00000413011.5:n.372-4619C>T | ||
| ENST00000482239.5:n.396-4619C>T | ||
| ENST00000495402.1:n.432-4619C>T | ||
| ENST00000618232.1:c.*42-4619C>T | ENSP00000477622.1:n.*42-4619C>T | |
| NM_001167959.1:c.107-4619C>T | NP_001161431.1:n.107-4619C>T | |
| NM_152390.2:c.653-4619C>T | NP_689603.2:n.653-4619C>T | |
| XM_005264144.1:c.515-4619C>T | XP_005264201.1:n.515-4619C>T | |
| XM_005264145.1:c.401-4619C>T | XP_005264202.1:n.401-4619C>T | |
| XM_017003369.1:c.*849C>T | XP_016858858.1:n.*849C>T | |
| XM_017003370.2:c.107-4619C>T | XP_016858859.1:n.107-4619C>T | |
| XM_017003371.1:c.107-4619C>T | XP_016858860.1:n.107-4619C>T | |
| XM_024452702.1:c.401-22838C>T | XP_024308470.1:n.401-22838C>T | |
| XM_024452703.1:c.107-4619C>T | XP_024308471.1:n.107-4619C>T | |
| XM_024452704.1:c.107-4619C>T | XP_024308472.1:n.107-4619C>T | |
| XM_024452705.1:c.107-4619C>T | XP_024308473.1:n.107-4619C>T | |
| NM_152390.3:c.653-4619C>T MANE Select | NP_689603.2:n.653-4619C>T | |
| NM_001167959.2:c.107-4619C>T | NP_001161431.1:n.107-4619C>T |