Linked Data
ClinVar Variation Id:
2793069
ClinVar RCV Id:
RCV003667625
dbSNP Id:
rs1270027263
gnomAD v2:
1-209806101-A-G
gnomAD v3:
1-209632756-A-G
gnomAD v4:
1-209632756-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209632756A>G , CM000663.2:g.209632756A>G | GRCh38 |
| NC_000001.10:g.209806101A>G , CM000663.1:g.209806101A>G | GRCh37 |
| NC_000001.9:g.207872724A>G | NCBI36 |
| NG_007116.1:g.24720T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.649T>C MANE Select | ENSP00000348384.3:p.Leu217= | |
| ENST00000356082.8:c.649T>C | ENSP00000348384.3:p.Leu217= | |
| ENST00000367030.7:c.649T>C | ENSP00000355997.3:p.Leu217= | |
| ENST00000391911.5:c.649T>C | ENSP00000375778.1:p.Leu217= | |
| NM_000228.2:c.649T>C | NP_000219.2:p.Leu217= | |
| NM_001017402.1:c.649T>C | NP_001017402.1:p.Leu217= | |
| NM_001127641.1:c.649T>C | NP_001121113.1:p.Leu217= | |
| XM_005273124.3:c.649T>C | XP_005273181.1:p.Leu217= | |
| XM_005273124.4:c.649T>C | XP_005273181.1:p.Leu217= | |
| XM_017001272.2:c.457T>C | XP_016856761.1:p.Leu153= | |
| NM_000228.3:c.649T>C MANE Select | NP_000219.2:p.Leu217= | |
| NM_001017402.2:c.649T>C | NP_001017402.1:p.Leu217= |