Linked Data
ClinVar Variation Id:
2166586
ClinVar RCV Id:
RCV003080156
dbSNP Id:
rs941023182
gnomAD v2:
8-97157440-A-G
gnomAD v4:
8-96145212-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145212A>G , CM000670.2:g.96145212A>G | GRCh38 |
| NC_000008.10:g.97157440A>G , CM000670.1:g.97157440A>G | GRCh37 |
| NC_000008.9:g.97226616A>G | NCBI36 |
| NG_008981.1:g.20581T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.719T>C MANE Select | ENSP00000287020.4:p.Leu240Pro | |
| ENST00000287020.6:c.719T>C | ENSP00000287020.4:p.Leu240Pro | |
| ENST00000620978.1:c.706+13T>C | ENSP00000480170.1:n.706+13T>C | |
| ENST00000621429.1:c.719T>C | ENSP00000483711.1:p.Leu240Pro | |
| NM_001001557.2:c.719T>C | NP_001001557.1:p.Leu240Pro | |
| XM_011517030.1:c.320T>C | XP_011515332.1:p.Leu107Pro | |
| NM_001001557.3:c.719T>C | NP_001001557.1:p.Leu240Pro | |
| NM_001001557.4:c.719T>C MANE Select | NP_001001557.1:p.Leu240Pro |