Linked Data
dbSNP Id:
rs3745516
gnomAD v2:
19-50926742-A-G
gnomAD v3:
19-50423485-A-G
gnomAD v4:
19-50423485-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50423485A>G , CM000681.2:g.50423485A>G | GRCh38 |
| NC_000019.9:g.50926742A>G , CM000681.1:g.50926742A>G | GRCh37 |
| NC_000019.8:g.55618554A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000595883.6:c.340-120A>G MANE Select | ENSP00000471921.1:n.340-120A>G | |
| ENST00000270632.7:c.340-120A>G | ENSP00000270632.7:n.340-120A>G | |
| ENST00000439922.6:c.67-120A>G | ENSP00000391877.2:n.67-120A>G | |
| ENST00000595883.5:c.340-120A>G | ENSP00000471921.1:n.340-120A>G | |
| ENST00000596074.5:c.125-120A>G | ENSP00000470970.1:n.125-120A>G | |
| ENST00000597855.5:c.340-155A>G | ENSP00000469023.1:n.340-155A>G | |
| ENST00000599632.1:c.743-120A>G | ||
| NM_001243998.1:c.67-120A>G | NP_001230927.1:n.67-120A>G | |
| NM_001243999.1:c.340-120A>G | NP_001230928.1:n.340-120A>G | |
| NM_001244000.1:c.282-155A>G | NP_001230929.1:n.282-155A>G | |
| NM_003121.4:c.340-120A>G | NP_003112.2:n.340-120A>G | |
| NM_003121.5:c.340-120A>G MANE Select | NP_003112.2:n.340-120A>G | |
| NM_001243999.2:c.340-120A>G | NP_001230928.1:n.340-120A>G | |
| NM_001244000.2:c.282-155A>G | NP_001230929.2:n.282-155A>G | |
| NM_001243998.2:c.67-120A>G | NP_001230927.1:n.67-120A>G |