Linked Data
ClinVar Variation Id:
2876689
ClinVar RCV Id:
RCV003710448
dbSNP Id:
rs768858248
ExAC:
18:12353078 T / C
gnomAD v2:
18-12353078-T-C
gnomAD v4:
18-12353079-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12353079T>C , CM000680.2:g.12353079T>C | GRCh38 |
| NC_000018.9:g.12353078T>C , CM000680.1:g.12353078T>C | GRCh37 |
| NC_000018.8:g.12343078T>C | NCBI36 |
| NG_023361.1:g.29198A>G , LRG_666:g.29198A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*840A>G | ENSP00000508998.1:n.*840A>G | |
| ENST00000688199.1:c.1106A>G | ENSP00000510237.1:p.Lys369Arg | |
| ENST00000691179.1:c.1169A>G | ENSP00000509010.1:p.Lys390Arg | |
| ENST00000691970.1:c.*621A>G | ENSP00000508440.1:n.*621A>G | |
| ENST00000692497.1:c.1244A>G | ENSP00000509870.1:p.Lys415Arg | |
| ENST00000692988.1:n.1062A>G | ||
| ENST00000269143.8:c.1244A>G MANE Select | ENSP00000269143.2:p.Lys415Arg | |
| ENST00000269143.7:c.1244A>G | ENSP00000269143.2:p.Lys415Arg | |
| NM_006796.2:c.1244A>G , LRG_666t1:c.1244A>G | NP_006787.2:p.Lys415Arg | |
| XM_011525601.1:c.1244A>G | XP_011523903.1:p.Lys415Arg | |
| XM_011525601.3:c.1244A>G | XP_011523903.1:p.Lys415Arg | |
| NM_006796.3:c.1244A>G MANE Select | NP_006787.2:p.Lys415Arg |