Linked Data
dbSNP Id:
rs12714402
gnomAD v2:
2-272926-A-G
gnomAD v3:
2-272926-A-G
gnomAD v4:
2-272926-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.272926A>G , CM000664.2:g.272926A>G | GRCh38 |
| NC_000002.11:g.272926A>G , CM000664.1:g.272926A>G | GRCh37 |
| NC_000002.10:g.262926A>G | NCBI36 |
| NG_012035.1:g.13058A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272067.11:c.231+621A>G (ACP1) | ENSP00000272067.6:n.231+621A>G | |
| ENST00000272065.10:c.231+776A>G (ACP1) MANE Select | ENSP00000272065.5:n.231+776A>G | |
| ENST00000272065.9:c.231+776A>G (ACP1) | ENSP00000272065.5:n.231+776A>G | |
| ENST00000272067.10:c.231+621A>G (ACP1) | ENSP00000272067.6:n.231+621A>G | |
| ENST00000405233.5:c.*668A>G (ACP1) | ENSP00000384307.1:n.*668A>G | |
| ENST00000405364.2:c.*166+621A>G (ACP1) | ENSP00000384184.2:n.*166+621A>G | |
| ENST00000413140.5:c.231+776A>G (ACP1) | ENSP00000410331.1:n.231+776A>G | |
| ENST00000442386.5:c.*137+776A>G (ACP1) | ENSP00000389681.1:n.*137+776A>G | |
| ENST00000453390.5:c.260+621A>G (ACP1) | ENSP00000411121.1:n.260+621A>G | |
| ENST00000480874.5:n.260+776A>G (ACP1) | ||
| ENST00000484464.5:n.262+776A>G (ACP1) | ||
| NM_004300.3:c.231+776A>G (SCARNA10) | NP_004291.1:n.231+776A>G | |
| NM_007099.3:c.231+621A>G (SCARNA10) | NP_009030.1:n.231+621A>G | |
| NR_024080.1:n.356+621A>G (SCARNA10) | ||
| XM_011510363.1:c.231+621A>G (SCARNA10) | XP_011508665.1:n.231+621A>G | |
| XR_922680.1:n.987+621A>G (SCARNA10) | ||
| XR_001738777.1:n.451+621A>G (SCARNA10) | ||
| NM_004300.4:c.231+776A>G (SCARNA10) MANE Select | NP_004291.1:n.231+776A>G | |
| NM_007099.4:c.231+621A>G (SCARNA10) | NP_009030.1:n.231+621A>G | |
| NR_024080.2:n.278+621A>G (SCARNA10) |