Linked Data
ClinVar Variation Id:
2145972
ClinVar RCV Id:
RCV003066891
dbSNP Id:
rs781585106
MyVariant Identifiers:
chr15:g.38643700C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351499C>G , CM000677.2:g.38351499C>G | GRCh38 |
| NC_000015.9:g.38643700C>G , CM000677.1:g.38643700C>G | GRCh37 |
| NC_000015.8:g.36430992C>G | NCBI36 |
| NG_008980.1:g.103649C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1170C>G MANE Select | ENSP00000299084.4:p.Pro390= | |
| ENST00000299084.8:c.1170C>G | ENSP00000299084.4:p.Pro390= | |
| NM_152594.2:c.1170C>G | NP_689807.1:p.Pro390= | |
| XM_005254202.2:c.1206C>G | XP_005254259.1:p.Pro402= | |
| XM_005254203.3:c.948C>G | XP_005254260.1:p.Pro316= | |
| XM_011521288.1:c.1107C>G | XP_011519590.1:p.Pro369= | |
| XM_011521289.1:c.1107C>G | XP_011519591.1:p.Pro369= | |
| XM_011521290.1:c.1107C>G | XP_011519592.1:p.Pro369= | |
| XM_005254202.3:c.1206C>G | XP_005254259.1:p.Pro402= | |
| XM_011521289.3:c.1107C>G | XP_011519591.1:p.Pro369= | |
| NM_152594.3:c.1170C>G MANE Select | NP_689807.1:p.Pro390= |