Linked Data
ClinVar Variation Id:
2863980
ClinVar RCV Id:
RCV003702542
dbSNP Id:
rs2051541084
MyVariant Identifiers:
chr15:g.89755088A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89211857A>G , CM000677.2:g.89211857A>G | GRCh38 |
| NC_000015.9:g.89755088A>G , CM000677.1:g.89755088A>G | GRCh37 |
| NC_000015.8:g.87556092A>G | NCBI36 |
| NG_008116.1:g.14835T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268125.10:c.570T>C MANE Select | ENSP00000268125.5:p.Asn190= | |
| ENST00000268125.9:c.570T>C | ENSP00000268125.5:p.Asn190= | |
| ENST00000567787.1:c.*148T>C | ENSP00000457251.1:n.*148T>C | |
| NM_000326.4:c.570T>C | NP_000317.1:p.Asn190= | |
| XM_011521870.1:c.570T>C | XP_011520172.1:p.Asn190= | |
| XM_011521871.1:c.495T>C | XP_011520173.1:p.Asn165= | |
| XM_011521872.1:c.495T>C | XP_011520174.1:p.Asn165= | |
| XM_011521870.2:c.570T>C | XP_011520172.1:p.Asn190= | |
| XM_017022460.1:c.597T>C | XP_016877949.1:p.Asn199= | |
| NM_000326.5:c.570T>C MANE Select | NP_000317.1:p.Asn190= |