Linked Data
ClinVar Variation Id:
1103621
ClinVar RCV Id:
RCV001427358
dbSNP Id:
rs1555422101
gnomAD v4:
15-42401663-G-A
MyVariant Identifiers:
chr15:g.42693861G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42401663G>A , CM000677.2:g.42401663G>A | GRCh38 |
| NC_000015.9:g.42693861G>A , CM000677.1:g.42693861G>A | GRCh37 |
| NC_000015.8:g.40481153G>A | NCBI36 |
| NG_008660.1:g.58561G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.1233G>A | ENSP00000183936.4:p.Gln411= | |
| ENST00000357568.8:c.1377G>A | ENSP00000350181.3:p.Gln459= | |
| ENST00000397163.8:c.1377G>A MANE Select | ENSP00000380349.3:p.Gln459= | |
| ENST00000466369.5:n.1886G>A | ||
| ENST00000483208.5:n.1608G>A | ||
| ENST00000495723.1:n.1608G>A | ||
| ENST00000549793.5:n.1608G>A | ||
| ENST00000638141.2:n.1248G>A | ||
| ENST00000673705.1:c.309+2011G>A | ENSP00000501021.1:n.309+2011G>A | |
| ENST00000318023.11:c.1233G>A | ENSP00000326281.8:p.Gln411= | |
| ENST00000349748.7:c.1233G>A | ENSP00000183936.4:p.Gln411= | |
| ENST00000357568.7:c.1377G>A | ENSP00000350181.3:p.Gln459= | |
| ENST00000397163.7:c.1377G>A | ENSP00000380349.3:p.Gln459= | |
| NM_000070.2:c.1377G>A | NP_000061.1:p.Gln459= | |
| NM_024344.1:c.1377G>A | NP_077320.1:p.Gln459= | |
| NM_173087.1:c.1233G>A | NP_775110.1:p.Gln411= | |
| NM_000070.3:c.1377G>A MANE Select | NP_000061.1:p.Gln459= | |
| NM_024344.2:c.1377G>A | NP_077320.1:p.Gln459= | |
| NM_173087.2:c.1233G>A | NP_775110.1:p.Gln411= |