Linked Data
dbSNP Id:
rs1044117531
gnomAD v2:
17-1554350-C-T
gnomAD v3:
17-1651056-C-T
gnomAD v4:
17-1651056-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1651056C>T , CM000679.2:g.1651056C>T | GRCh38 |
| NC_000017.10:g.1554350C>T , CM000679.1:g.1554350C>T | GRCh37 |
| NC_000017.9:g.1501100C>T | NCBI36 |
| NG_009118.1:g.38827G>A | |
| NG_033061.1:g.4043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6673+52G>A | ENSP00000460849.2:n.6673+52G>A | |
| ENST00000703537.1:c.2601+52G>A | ||
| ENST00000703538.1:c.*6576+52G>A | ENSP00000515361.1:n.*6576+52G>A | |
| ENST00000703539.1:n.3167+52G>A | ||
| ENST00000703540.1:c.6706+52G>A | ENSP00000515362.1:n.6706+52G>A | |
| ENST00000703541.1:c.6718+52G>A | ENSP00000515363.1:n.6718+52G>A | |
| ENST00000304992.11:c.6853+52G>A MANE Select | ENSP00000304350.6:n.6853+52G>A | |
| ENST00000304992.10:c.6853+52G>A | ENSP00000304350.6:n.6853+52G>A | |
| ENST00000571958.1:c.162+52G>A | ||
| ENST00000572621.5:c.6853+52G>A | ENSP00000460348.1:n.6853+52G>A | |
| ENST00000572723.1:n.842+52G>A | ||
| NM_006445.3:c.6853+52G>A | NP_006436.3:n.6853+52G>A | |
| XM_024450537.1:c.6853+52G>A | XP_024306305.1:n.6853+52G>A | |
| NM_006445.4:c.6853+52G>A MANE Select | NP_006436.3:n.6853+52G>A |