Linked Data
ClinVar Variation Id:
2119091
ClinVar RCV Id:
RCV003054487
dbSNP Id:
rs1266509994
gnomAD v2:
5-39308449-T-G
gnomAD v4:
5-39308347-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.39308347T>G , CM000667.2:g.39308347T>G | GRCh38 |
| NC_000005.9:g.39308449T>G , CM000667.1:g.39308449T>G | GRCh37 |
| NC_000005.8:g.39344206T>G | NCBI36 |
| NG_009894.1:g.61207A>C , LRG_32:g.61207A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509186.6:c.1051A>C | ENSP00000512235.1:p.Lys351Gln | |
| ENST00000695880.1:c.1112-1555A>C | ENSP00000512236.1:n.1112-1555A>C | |
| ENST00000695881.1:c.1123A>C | ENSP00000512237.1:p.Lys375Gln | |
| ENST00000695882.1:n.350A>C | ||
| ENST00000263408.5:c.1123A>C MANE Select | ENSP00000263408.4:p.Lys375Gln | |
| ENST00000263408.4:c.1123A>C | ENSP00000263408.4:p.Lys375Gln | |
| NM_001737.3:c.1123A>C , LRG_32t1:c.1123A>C | NP_001728.1:p.Lys375Gln | |
| NM_001737.4:c.1123A>C | NP_001728.1:p.Lys375Gln | |
| NM_001737.5:c.1123A>C MANE Select | NP_001728.1:p.Lys375Gln |