Linked Data
dbSNP Id:
rs17114046
gnomAD v2:
1-56966350-A-G
gnomAD v3:
1-56500678-A-G
gnomAD v4:
1-56500678-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56500678A>G , CM000663.2:g.56500678A>G | GRCh38 |
| NC_000001.10:g.56966350A>G , CM000663.1:g.56966350A>G | GRCh37 |
| NC_000001.9:g.56738938A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371250.4:c.811-4002T>C MANE Select | ENSP00000360296.3:n.811-4002T>C | |
| ENST00000641109.1:c.220-4002T>C | ENSP00000493138.1:n.220-4002T>C | |
| ENST00000641494.1:c.65-4002T>C | ||
| ENST00000642129.1:c.455-4002T>C | ||
| ENST00000371250.3:c.811-4002T>C | ENSP00000360296.3:n.811-4002T>C | |
| ENST00000459962.1:n.1797-4002T>C | ||
| ENST00000472957.1:n.296-4002T>C | ||
| NM_003713.4:c.811-4002T>C | NP_003704.3:n.811-4002T>C | |
| NM_003713.5:c.811-4002T>C MANE Select | NP_003704.3:n.811-4002T>C |