Linked Data
ClinVar Variation Id:
238126
ClinVar RCV Id:
RCV000229850
dbSNP Id:
rs202148988
ExAC:
8:30915979 T / C
gnomAD v2:
8-30915979-T-C
gnomAD v3:
8-31058463-T-C
gnomAD v4:
8-31058463-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31058463T>C , CM000670.2:g.31058463T>C | GRCh38 |
| NC_000008.10:g.30915979T>C , CM000670.1:g.30915979T>C | GRCh37 |
| NC_000008.9:g.31035521T>C | NCBI36 |
| NG_008870.1:g.30202T>C , LRG_524:g.30202T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.16T>C MANE Select | ENSP00000298139.5:p.Leu6= | |
| ENST00000650667.1:c.16T>C | ENSP00000498593.1:p.Leu6= | |
| ENST00000298139.5:c.16T>C | ENSP00000298139.5:p.Leu6= | |
| NM_000553.4:c.16T>C , LRG_524t1:c.16T>C | NP_000544.2:p.Leu6= | |
| XM_011544639.1:c.16T>C | XP_011542941.1:p.Leu6= | |
| XR_949470.1:n.289T>C | ||
| XR_949471.1:n.289T>C | ||
| XR_949472.1:n.289T>C | ||
| NM_000553.5:c.16T>C | NP_000544.2:p.Leu6= | |
| XM_011544639.3:c.16T>C | XP_011542941.1:p.Leu6= | |
| XM_024447265.1:c.-319T>C | XP_024303033.1:n.-319T>C | |
| XR_949470.3:n.317T>C | ||
| XR_949471.3:n.317T>C | ||
| XR_949472.3:n.317T>C | ||
| NM_000553.6:c.16T>C MANE Select | NP_000544.2:p.Leu6= |