Linked Data
dbSNP Id:
rs8101149
gnomAD v2:
19-47600441-G-A
gnomAD v3:
19-47097184-G-A
gnomAD v4:
19-47097184-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47097184G>A , CM000681.2:g.47097184G>A | GRCh38 |
| NC_000019.9:g.47600441G>A , CM000681.1:g.47600441G>A | GRCh37 |
| NC_000019.8:g.52292281G>A | NCBI36 |
| NG_027798.1:g.21569C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253048.10:c.162-2576C>T MANE Select | ENSP00000253048.4:n.162-2576C>T | |
| ENST00000253048.9:c.162-2576C>T | ENSP00000253048.4:n.162-2576C>T | |
| ENST00000594019.5:n.83-2576C>T | ||
| ENST00000597069.1:n.163-2576C>T | ||
| NM_015168.1:c.162-2576C>T | NP_055983.1:n.162-2576C>T | |
| XM_005258677.3:c.39-2576C>T | XP_005258734.1:n.39-2576C>T | |
| XM_005258678.1:c.15-2576C>T | XP_005258735.1:n.15-2576C>T | |
| XM_006723113.2:c.162-2576C>T | XP_006723176.1:n.162-2576C>T | |
| XM_011526668.1:c.39-2576C>T | XP_011524970.1:n.39-2576C>T | |
| XM_011526669.1:c.24-2576C>T | XP_011524971.1:n.24-2576C>T | |
| XM_011526670.1:c.12-2576C>T | XP_011524972.1:n.12-2576C>T | |
| XM_005258676.3:c.-328C>T | XP_005258733.1:n.-328C>T | |
| XM_005258677.4:c.39-2576C>T | XP_005258734.1:n.39-2576C>T | |
| XM_005258678.2:c.15-2576C>T | XP_005258735.1:n.15-2576C>T | |
| XM_006723113.3:c.162-2576C>T | XP_006723176.1:n.162-2576C>T | |
| XM_011526668.3:c.39-2576C>T | XP_011524970.1:n.39-2576C>T | |
| XM_011526669.3:c.24-2576C>T | XP_011524971.1:n.24-2576C>T | |
| XM_011526670.3:c.12-2576C>T | XP_011524972.1:n.12-2576C>T | |
| XM_017026530.2:c.162-2576C>T | XP_016882019.1:n.162-2576C>T | |
| XM_017026531.1:c.-575-2576C>T | XP_016882020.1:n.-575-2576C>T | |
| NM_015168.2:c.162-2576C>T MANE Select | NP_055983.1:n.162-2576C>T |