Linked Data
ClinVar Variation Id:
135448
dbSNP Id:
rs148229804
ExAC:
8:30925839 T / G
gnomAD v2:
8-30925839-T-G
gnomAD v3:
8-31068323-T-G
gnomAD v4:
8-31068323-T-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31068323T>G , CM000670.2:g.31068323T>G | GRCh38 |
| NC_000008.10:g.30925839T>G , CM000670.1:g.30925839T>G | GRCh37 |
| NC_000008.9:g.31045381T>G | NCBI36 |
| NG_008870.1:g.40062T>G , LRG_524:g.40062T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298139.7:c.720T>G MANE Select | ENSP00000298139.5:p.Asn240Lys | |
| ENST00000650667.1:c.*334T>G | ENSP00000498593.1:n.*334T>G | |
| ENST00000651642.1:c.15T>G | ENSP00000498779.1:p.Asn5Lys | |
| ENST00000298139.5:c.720T>G | ENSP00000298139.5:p.Asn240Lys | |
| NM_000553.4:c.720T>G , LRG_524t1:c.720T>G | NP_000544.2:p.Asn240Lys | |
| XM_011544639.1:c.720T>G | XP_011542941.1:p.Asn240Lys | |
| XR_949470.1:n.993T>G | ||
| XR_949471.1:n.993T>G | ||
| XR_949472.1:n.993T>G | ||
| NM_000553.5:c.720T>G | NP_000544.2:p.Asn240Lys | |
| XM_011544639.3:c.720T>G | XP_011542941.1:p.Asn240Lys | |
| XM_024447265.1:c.510T>G | XP_024303033.1:p.Asn170Lys | |
| XR_949470.3:n.1021T>G | ||
| XR_949471.3:n.1021T>G | ||
| XR_949472.3:n.1021T>G | ||
| NM_000553.6:c.720T>G MANE Select | NP_000544.2:p.Asn240Lys |