Linked Data
ClinVar Variation Id:
1533994
ClinVar RCV Id:
RCV002071478
dbSNP Id:
rs2137113011
gnomAD v4:
12-101761739-A-G
MyVariant Identifiers:
chr12:g.102155517A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761739A>G , CM000674.2:g.101761739A>G | GRCh38 |
| NC_000012.11:g.102155517A>G , CM000674.1:g.102155517A>G | GRCh37 |
| NC_000012.10:g.100679648A>G | NCBI36 |
| NG_021243.1:g.74129T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2740T>C MANE Select | ENSP00000299314.7:p.Leu914= | |
| ENST00000299314.11:c.2740T>C | ENSP00000299314.7:p.Leu914= | |
| NM_024312.4:c.2740T>C | NP_077288.2:p.Leu914= | |
| XM_006719593.2:c.2740T>C | XP_006719656.1:p.Leu914= | |
| XM_011538731.1:c.2659T>C | XP_011537033.1:p.Leu887= | |
| XM_006719593.3:c.2740T>C | XP_006719656.1:p.Leu914= | |
| XM_011538731.2:c.2659T>C | XP_011537033.1:p.Leu887= | |
| XM_017019961.1:c.2524T>C | XP_016875450.1:p.Leu842= | |
| XM_017019962.2:c.1513T>C | XP_016875451.1:p.Leu505= | |
| NM_024312.5:c.2740T>C MANE Select | NP_077288.2:p.Leu914= |