Linked Data
ClinVar Variation Id:
1415854
dbSNP Id:
rs747597752
ExAC:
5:149453022 G / C
gnomAD v2:
5-149453022-G-C
gnomAD v3:
5-150073459-G-C
gnomAD v4:
5-150073459-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150073459G>C , CM000667.2:g.150073459G>C | GRCh38 |
| NC_000005.9:g.149453022G>C , CM000667.1:g.149453022G>C | GRCh37 |
| NC_000005.8:g.149433215G>C | NCBI36 |
| NG_012303.1:g.44914C>G | |
| NG_012303.2:g.44914C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675795.1:c.924C>G MANE Select | ENSP00000501699.1:p.Asn308Lys | |
| ENST00000286301.7:c.924C>G | ENSP00000286301.3:p.Asn308Lys | |
| ENST00000504875.5:c.924C>G | ENSP00000422212.1:p.Asn308Lys | |
| ENST00000543093.1:c.890-2888C>G | ENSP00000445282.1:n.890-2888C>G | |
| NM_001288705.1:c.924C>G | NP_001275634.1:p.Asn308Lys | |
| NM_005211.3:c.924C>G | NP_005202.2:p.Asn308Lys | |
| NR_109969.1:n.1137C>G | ||
| NM_001288705.2:c.924C>G | NP_001275634.1:p.Asn308Lys | |
| NM_001349736.1:c.924C>G | NP_001336665.1:p.Asn308Lys | |
| NM_001288705.3:c.924C>G MANE Select | NP_001275634.1:p.Asn308Lys | |
| NM_001375320.1:c.924C>G | NP_001362249.1:p.Asn308Lys | |
| NM_001375321.1:c.480C>G | NP_001362250.1:p.Asn160Lys | |
| NR_164679.1:n.980C>G | ||
| NM_001349736.2:c.924C>G | NP_001336665.1:p.Asn308Lys | |
| NM_005211.4:c.924C>G | NP_005202.2:p.Asn308Lys | |
| NR_109969.2:n.1051C>G |