Linked Data
dbSNP Id:
rs548987254
gnomAD v2:
1-43409147-T-C
gnomAD v3:
1-42943476-T-C
gnomAD v4:
1-42943476-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42943476T>C , CM000663.2:g.42943476T>C | GRCh38 |
| NC_000001.10:g.43409147T>C , CM000663.1:g.43409147T>C | GRCh37 |
| NC_000001.9:g.43181734T>C | NCBI36 |
| NG_008232.1:g.20701A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.19-155A>G MANE Select | ENSP00000416293.2:n.19-155A>G | |
| ENST00000674765.1:c.19-155A>G | ENSP00000501811.1:n.19-155A>G | |
| ENST00000675112.1:n.42-155A>G | ||
| ENST00000372500.4:c.19-12270A>G | ENSP00000361578.4:n.19-12270A>G | |
| ENST00000415851.6:n.236-155A>G | ||
| ENST00000426263.7:c.19-155A>G | ENSP00000416293.2:n.19-155A>G | |
| ENST00000625233.2:n.227-155A>G | ||
| ENST00000628173.1:n.238-155A>G | ||
| ENST00000630287.2:c.19-155A>G | ENSP00000486694.1:n.19-155A>G | |
| ENST00000630821.1:n.236-155A>G | ||
| NM_006516.2:c.19-155A>G | NP_006507.2:n.19-155A>G | |
| NM_006516.3:c.19-155A>G | NP_006507.2:n.19-155A>G | |
| NM_006516.4:c.19-155A>G MANE Select | NP_006507.2:n.19-155A>G |