Linked Data
ClinVar Variation Id:
3063838
ClinVar RCV Id:
RCV003988426
dbSNP Id:
rs116047990
ExAC:
3:165548703 T / C
gnomAD v2:
3-165548703-T-C
gnomAD v3:
3-165830915-T-C
gnomAD v4:
3-165830915-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830915T>C , CM000665.2:g.165830915T>C | GRCh38 |
| NC_000003.11:g.165548703T>C , CM000665.1:g.165548703T>C | GRCh37 |
| NC_000003.10:g.167031397T>C | NCBI36 |
| NG_009031.1:g.11551A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.119A>G MANE Select | ENSP00000264381.3:p.Lys40Arg | |
| ENST00000264381.7:c.119A>G | ENSP00000264381.3:p.Lys40Arg | |
| ENST00000479451.5:c.107+6399A>G | ENSP00000418325.1:n.107+6399A>G | |
| ENST00000482958.1:c.119A>G | ENSP00000419804.1:p.Lys40Arg | |
| ENST00000488954.1:c.107+6399A>G | ENSP00000418504.1:n.107+6399A>G | |
| ENST00000497011.5:c.119A>G | ENSP00000419505.1:p.Lys40Arg | |
| NM_000055.2:c.119A>G | NP_000046.1:p.Lys40Arg | |
| XM_005247685.1:c.242A>G | XP_005247742.1:p.Lys81Arg | |
| NM_000055.3:c.119A>G | NP_000046.1:p.Lys40Arg | |
| NR_137635.1:n.159+6399A>G | ||
| NR_137636.1:n.286A>G | ||
| NM_000055.4:c.119A>G MANE Select | NP_000046.1:p.Lys40Arg | |
| NR_137635.2:n.110+6399A>G | ||
| NR_137636.2:n.237A>G |