Linked Data
ClinVar Variation Id:
949
ClinVar RCV Id:
RCV000000999
dbSNP Id:
rs112321280
PubMed:
PMID:19776401
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.336714A>G , CM000671.2:g.336714A>G | GRCh38 |
| NC_000009.11:g.336714A>G , CM000671.1:g.336714A>G | GRCh37 |
| NC_000009.10:g.326714A>G | NCBI36 |
| NG_017007.1:g.126850A>G , LRG_196:g.126850A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382329.2:c.1214A>G | ENSP00000371766.2:p.Lys405Arg | |
| ENST00000483757.6:c.1214A>G | ENSP00000417691.2:p.Lys405Arg | |
| ENST00000432829.7:c.1418A>G MANE Select | ENSP00000394888.3:p.Lys473Arg | |
| ENST00000382341.5:n.1313A>G | ||
| ENST00000432829.6:c.1418A>G | ENSP00000394888.3:p.Lys473Arg | |
| ENST00000453981.5:c.1214A>G | ENSP00000408464.2:p.Lys405Arg | |
| ENST00000454469.6:n.1527A>G | ||
| ENST00000469391.5:c.1214A>G | ENSP00000419438.1:p.Lys405Arg | |
| ENST00000483757.5:c.1214A>G | ENSP00000417691.1:p.Lys405Arg | |
| ENST00000495184.5:n.1279A>G | ||
| ENST00000524396.5:c.*1381A>G | ENSP00000436628.1:n.*1381A>G | |
| NM_001190458.1:c.1214A>G | NP_001177387.1:p.Lys405Arg | |
| NM_001193536.1:c.1214A>G | NP_001180465.1:p.Lys405Arg | |
| NM_203447.3:c.1418A>G , LRG_196t1:c.1418A>G | NP_982272.2:p.Lys473Arg | |
| XM_011518045.1:c.1214A>G | XP_011516347.1:p.Lys405Arg | |
| XM_011518046.1:c.1280A>G | XP_011516348.1:p.Lys427Arg | |
| XM_011518047.1:c.1214A>G | XP_011516349.1:p.Lys405Arg | |
| XM_011518048.1:c.1214A>G | XP_011516350.1:p.Lys405Arg | |
| XM_011518045.3:c.1214A>G | XP_011516347.1:p.Lys405Arg | |
| XM_011518046.2:c.1280A>G | XP_011516348.1:p.Lys427Arg | |
| XM_011518047.3:c.1214A>G | XP_011516349.1:p.Lys405Arg | |
| XM_011518048.2:c.1214A>G | XP_011516350.1:p.Lys405Arg | |
| XM_017015173.1:c.1214A>G | XP_016870662.1:p.Lys405Arg | |
| XM_017015174.1:c.1280A>G | XP_016870663.1:p.Lys427Arg | |
| NM_001190458.2:c.1214A>G | NP_001177387.1:p.Lys405Arg | |
| NM_001193536.2:c.1214A>G | NP_001180465.1:p.Lys405Arg | |
| NM_203447.4:c.1418A>G MANE Select | NP_982272.2:p.Lys473Arg |